AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentDisciplines and Occupations
Refsum DiseasePhytanic AcidRefsum Disease, InfantilePeroxisomal DisordersPhytolZellweger SyndromeMicrobodiesCoenzyme AMixed Function OxygenasesPeroxisomesEncephalitis, St. LouisGeneticsEncephalitis Virus, St. LouisIndividualized MedicineGenomicsMolecular MedicineGenetics, Medical
Refsum Disease
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Phytanic Acid
A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency.
Refsum Disease, Infantile
An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Peroxisomal Disorders
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Phytol
Phytol is a diterpene alcohol that is a degradation product of chlorophyll and is used in the synthesis of vitamins E and K and other compounds in animals, but can also act as a phytoestrogen in certain plants.
Zellweger Syndrome
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Microbodies
Electron-dense cytoplasmic particles bounded by a single membrane, such as PEROXISOMES; GLYOXYSOMES; and glycosomes.
Coenzyme A
Coenzyme A is an essential coenzyme that plays a crucial role in various metabolic processes, particularly in the transfer and activation of acetyl groups in important biochemical reactions such as fatty acid synthesis and oxidation, and the citric acid cycle.
Mixed Function Oxygenases
Widely distributed enzymes that carry out oxidation-reduction reactions in which one atom of the oxygen molecule is incorporated into the organic substrate; the other oxygen atom is reduced and combined with hydrogen ions to form water. They are also known as monooxygenases or hydroxylases. These reactions require two substrates as reductants for each of the two oxygen atoms. There are different classes of monooxygenases depending on the type of hydrogen-providing cosubstrate (COENZYMES) required in the mixed-function oxidation.
Peroxisomes
Microbodies which occur in animal and plant cells and in certain fungi and protozoa. They contain peroxidase, catalase, and allied enzymes. (From Singleton and Sainsbury, Dictionary of Microbiology and Molecular Biology, 2nd ed)
Encephalitis, St. Louis
A viral encephalitis caused by the St. Louis encephalitis virus (ENCEPHALITIS VIRUS, ST. LOUIS), a FLAVIVIRUS. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus CULEX. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an ASEPTIC MENINGITIS or ENCEPHALITIS. Clinical manifestations of the encephalitic presentation may include SEIZURES, lethargy, MYOCLONUS, focal neurologic signs, COMA, and DEATH. (From Adams et al., Principles of Neurology, 6th ed, p750)
Genetics
The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)
Encephalitis Virus, St. Louis
A species of FLAVIVIRUS, one of the Japanese encephalitis virus group (ENCEPHALITIS VIRUSES, JAPANESE), which is the etiologic agent of ST. LOUIS ENCEPHALITIS in the United States, the Caribbean, and Central and South America.
Individualized Medicine
Therapeutic approach tailoring therapy for genetically defined subgroups of patients.
Genomics
The systematic study of the complete DNA sequences (GENOME) of organisms.
Molecular Medicine
The field of medicine concerned with understanding the biochemical basis of health and disease and involved in developing diagnostic and therapeutic methods that utilize MOLECULAR BIOLOGY techniques.
Genetics, Medical
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.

Peroxisome biogenesis disorders. (1/3)

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.  (+info)

Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial. (2/3)

 (+info)

The Delta4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome. (3/3)

 (+info)

Refsum Disease is a rare inherited neurological disorder characterized by the accumulation of phytanic acid in various tissues and body fluids due to impaired alpha-oxidation, resulting in retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, hearing loss, and cardiac dysfunction.

Refsum Disease is a rare inherited neurological disorder characterized by the accumulation of phytanic acid in various tissues of the body due to impaired breakdown of this fatty acid. This is caused by a deficiency in the enzyme phytanoyl-CoA hydroxylase or the transporter protein peroxisomal biogenesis factor 7 (PEX7).

The symptoms of Refsum Disease can vary but often include progressive neurological dysfunction, retinitis pigmentosa leading to decreased vision and night blindness, hearing loss, ichthyosis (dry, scaly skin), and cardiac abnormalities. The onset of symptoms is usually in childhood or adolescence, but milder cases may not become apparent until later in life.

The treatment for Refsum Disease involves a strict diet that limits the intake of phytanic acid, which is found in dairy products, beef, and certain fish. Plasmapheresis, a procedure to remove harmful substances from the blood, may also be used to reduce the levels of phytanic acid in the body. Early diagnosis and treatment can help slow down or prevent the progression of the disease.

Phytanic acid is a branched-chain fatty acid, specifically a 20-carbon fatty acid with three methyl branches, that is primarily derived from the diet through consumption of dairy products, ruminant meats, and fish, and is metabolized through the process of α-oxidation.

Phytanic acid is a branched-chain fatty acid that is primarily found in animal products, such as dairy foods and meat, but can also be present in some plants. It is a secondary plant metabolite that originates from the breakdown of phytol, a component of chlorophyll.

Phytanic acid is unique because it contains a methyl group branching off from the middle of the carbon chain, making it difficult for the body to break down and metabolize. Instead, it must be degraded through a process called α-oxidation, which takes place in peroxisomes.

In some cases, impaired phytanic acid metabolism can lead to a rare genetic disorder known as Refsum disease, which is characterized by the accumulation of phytanic acid in various tissues and organs, leading to neurological symptoms, retinal degeneration, and cardiac dysfunction.

Infantile Refsum Disease is a rare inherited neurological disorder characterized by the accumulation of phytanic acid in various tissues and organs due to mutations in the PHYH gene, leading to severe progressive neurological symptoms including difficulty with movement, vision loss, and hearing impairment.

Infantile Refsum Disease (IRD) is a rare inherited neurological disorder that is part of the group of peroxisomal biogenesis disorders. It is caused by mutations in the PHYH gene, which provides instructions for making an enzyme called phytanoyl-CoA hydroxylase. This enzyme plays a critical role in breaking down a type of fat called phytanic acid, which is found in certain foods such as dairy products, ruminant meat (beef, lamb), and some nuts and vegetables.

In IRD, the lack of functional phytanoyl-CoA hydroxylase enzyme leads to an accumulation of phytanic acid in various tissues of the body, including the nervous system. This accumulation can cause progressive neurological symptoms such as difficulty with coordination and movement, muscle weakness, hearing loss, vision problems, and intellectual disability.

IRD typically presents in infancy or early childhood with symptoms such as feeding difficulties, failure to thrive, hypotonia (low muscle tone), seizures, and developmental delays. Over time, the neurological symptoms can worsen, leading to significant disability and reduced life expectancy. Treatment for IRD involves a strict diet that limits the intake of phytanic acid, as well as plasma exchange therapy to remove excess phytanic acid from the bloodstream.

Peroxisomal disorders are a group of inherited metabolic diseases caused by defective function or structure of peroxisomes, leading to impaired cellular processes such as fatty acid oxidation, bile acid synthesis, and reactive oxygen species detoxification.

Peroxisomal disorders are a group of inherited metabolic diseases caused by defects in the function or structure of peroxisomes, which are specialized subcellular organelles found in the cells of animals, plants, and humans. These disorders can affect various aspects of metabolism, including fatty acid oxidation, bile acid synthesis, and plasma cholesterol levels.

Peroxisomal disorders can be classified into two main categories: single peroxisomal enzyme deficiencies and peroxisome biogenesis disorders (PBDs). Single peroxisomal enzyme deficiencies are characterized by a defect in a specific enzyme found within the peroxisome, while PBDs are caused by problems with the formation or assembly of the peroxisome itself.

Examples of single peroxisomal enzyme deficiencies include X-linked adrenoleukodystrophy (X-ALD), Refsum disease, and acyl-CoA oxidase deficiency. PBDs include Zellweger spectrum disorders, such as Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.

Symptoms of peroxisomal disorders can vary widely depending on the specific disorder and the severity of the enzyme or biogenesis defect. They may include neurological problems, vision and hearing loss, developmental delays, liver dysfunction, and skeletal abnormalities. Treatment typically focuses on managing symptoms and addressing any underlying metabolic imbalances.

Phytol is a diterpene alcohol that is a degradation product of chlorophyll and is used in the synthesis of vitamins E and K and other compounds in animals, but can also act as a phytoestrogen in certain plants.

Phytol is not a medical term, but rather a chemical compound. It is a diterpene alcohol that is a breakdown product of chlorophyll and is found in green plants. It is used in the synthesis of various compounds, including vitamins E and K, and is also used in the production of perfumes and fragrances. In the context of human health, phytol has been studied for its potential anti-cancer properties.

Zellweger Syndrome is a severe autosomal recessive disorder of peroxisome biogenesis, characterized by the absence of functional peroxisomes, which leads to a wide range of neurological abnormalities, facial dysmorphism, liver dysfunction, and sensorineural hearing loss.

Zellweger Syndrome is a rare genetic disorder that affects the development and function of multiple organ systems in the body. It is part of a group of conditions known as peroxisome biogenesis disorders (PBDs), which are characterized by abnormalities in the structure and function of peroxisomes, which are cellular structures that break down fatty acids and other substances in the body.

Zellweger Syndrome is caused by mutations in one or more genes involved in the formation and maintenance of peroxisomes. As a result, people with this condition have reduced levels of certain enzymes that are necessary for normal brain development, as well as for the breakdown of fats and other substances in the body.

Symptoms of Zellweger Syndrome typically appear within the first few months of life and may include:

* Severe developmental delays and intellectual disability
* Hypotonia (low muscle tone) and poor motor skills
* Vision and hearing problems
* Facial abnormalities, such as a high forehead, wide-set eyes, and a prominent nasal bridge
* Liver dysfunction and jaundice
* Seizures
* Feeding difficulties and failure to thrive

There is no cure for Zellweger Syndrome, and treatment is focused on managing the symptoms of the condition. The prognosis for people with this disorder is generally poor, with most individuals not surviving beyond the first year of life. However, some individuals with milder forms of the condition may live into early childhood or adolescence.

Microbodies are membrane-bound cellular organelles, typically 0.2-0.8 micrometers in diameter, that contain enzymes involved in various metabolic processes such as detoxification of harmful substances and fatty acid breakdown.

Microbodies are small, membrane-bound organelles found in the cells of eukaryotic organisms. They typically measure between 0.2 to 0.5 micrometers in diameter and play a crucial role in various metabolic processes, particularly in the detoxification of harmful substances and the synthesis of lipids.

There are several types of microbodies, including:

1. Peroxisomes: These are the most common type of microbody. They contain enzymes that help break down fatty acids and amino acids, producing hydrogen peroxide as a byproduct. Another set of enzymes within peroxisomes then converts the harmful hydrogen peroxide into water and oxygen, thus detoxifying the cell.
2. Glyoxysomes: These microbodies are primarily found in plants and some fungi. They contain enzymes involved in the glyoxylate cycle, a metabolic pathway that helps convert stored fats into carbohydrates during germination.
3. Microbody-like particles (MLPs): These are smaller organelles found in certain protists and algae. Their functions are not well understood but are believed to be involved in lipid metabolism.

It is important to note that microbodies do not have a uniform structure or function across all eukaryotic cells, and their specific roles can vary depending on the organism and cell type.

Coenzyme A is an essential coenzyme that plays a crucial role in various metabolic processes, particularly in the transfer and activation of acetyl groups in important biochemical reactions such as fatty acid synthesis and oxidation, and the citric acid cycle.

Coenzyme A, often abbreviated as CoA or sometimes holo-CoA, is a coenzyme that plays a crucial role in several important chemical reactions in the body, particularly in the metabolism of carbohydrates, fatty acids, and amino acids. It is composed of a pantothenic acid (vitamin B5) derivative called pantothenate, an adenosine diphosphate (ADP) molecule, and a terminal phosphate group.

Coenzyme A functions as a carrier molecule for acetyl groups, which are formed during the breakdown of carbohydrates, fatty acids, and some amino acids. The acetyl group is attached to the sulfur atom in CoA, forming acetyl-CoA, which can then be used as a building block for various biochemical pathways, such as the citric acid cycle (Krebs cycle) and fatty acid synthesis.

In summary, Coenzyme A is a vital coenzyme that helps facilitate essential metabolic processes by carrying and transferring acetyl groups in the body.

Mixed Function Oxygenases are a class of enzymes that catalyze the insertion of one atom each from molecular oxygen into their substrates, often involved in metabolic processes like detoxification and synthesis of various molecules within cells.

Mixed Function Oxygenases (MFOs) are a type of enzyme that catalyze the addition of one atom each from molecular oxygen (O2) to a substrate, while reducing the other oxygen atom to water. These enzymes play a crucial role in the metabolism of various endogenous and exogenous compounds, including drugs, carcinogens, and environmental pollutants.

MFOs are primarily located in the endoplasmic reticulum of cells and consist of two subunits: a flavoprotein component that contains FAD or FMN as a cofactor, and an iron-containing heme protein. The most well-known example of MFO is cytochrome P450, which is involved in the oxidation of xenobiotics and endogenous compounds such as steroids, fatty acids, and vitamins.

MFOs can catalyze a variety of reactions, including hydroxylation, epoxidation, dealkylation, and deamination, among others. These reactions often lead to the activation or detoxification of xenobiotics, making MFOs an important component of the body's defense system against foreign substances. However, in some cases, these reactions can also produce reactive intermediates that may cause toxicity or contribute to the development of diseases such as cancer.

Peroxisomes are single membrane-bound subcellular organelles that play a crucial role in cellular metabolism, including fatty acid oxidation, reactive oxygen species detoxification, and biosynthesis of ether phospholipids.

Peroxisomes are membrane-bound subcellular organelles found in the cytoplasm of eukaryotic cells. They play a crucial role in various cellular processes, including the breakdown of fatty acids and the detoxification of harmful substances such as hydrogen peroxide (H2O2). Peroxisomes contain numerous enzymes, including catalase, which converts H2O2 into water and oxygen, thus preventing oxidative damage to cellular components. They also participate in the biosynthesis of ether phospholipids, a type of lipid essential for the structure and function of cell membranes. Additionally, peroxisomes are involved in the metabolism of reactive oxygen species (ROS) and contribute to the regulation of intracellular redox homeostasis. Dysfunction or impairment of peroxisome function has been linked to several diseases, including neurological disorders, developmental abnormalities, and metabolic conditions.

St. Louis Encephalitis is a viral inflammation of the brain, specifically caused by the St. Louis Encephalitis virus, primarily transmitted through the bite of infected mosquitoes, often resulting in mild flu-like symptoms or potentially severe neurological manifestations such as meningitis, encephalitis, and seizures in humans.

St. Louis Encephalitis (SLE) is a type of viral brain inflammation caused by the St. Louis Encephalitis virus. It is transmitted to humans through the bite of infected mosquitoes, primarily Culex species. The virus breeds in warm, stagnant water and is more prevalent in rural and suburban areas.

Most people infected with SLE virus do not develop symptoms or only experience mild flu-like illness. However, some individuals, particularly the elderly, can develop severe illness characterized by sudden onset of fever, headache, neck stiffness, disorientation, coma, seizures, and spastic paralysis. There is no specific treatment for SLE, and management is focused on supportive care, including hydration, respiratory support, and prevention of secondary infections. Vaccination against SLE is not available, and prevention measures include using insect repellent, wearing protective clothing, and eliminating standing water around homes to reduce mosquito breeding sites.

"Genetics is the scientific study of heredity, the variation of inherited characteristics inherent to different biological organisms, primarily focusing on the DNA and the role of genes in biological inheritance."

Genetics is the scientific study of genes, heredity, and variation in living organisms. It involves the analysis of how traits are passed from parents to offspring, the function of genes, and the way genetic information is transmitted and expressed within an organism's biological system. Genetics encompasses various subfields, including molecular genetics, population genetics, quantitative genetics, and genomics, which investigate gene structure, function, distribution, and evolution in different organisms. The knowledge gained from genetics research has significant implications for understanding human health and disease, as well as for developing medical treatments and interventions based on genetic information.

St. Louis Encephalitis Virus (SLEV) is a flavivirus primarily transmitted by mosquitoes of the Culex species, causing an inflammation of the brain (encephalitis) in humans, characterized by symptoms such as fever, headache, nausea, vomiting, and may progress to severe neurologic dysfunction, including disorientation, seizures, coma, and paralysis.

St. Louis Encephalitis Virus (SLEV) is a type of arbovirus (arthropod-borne virus) from the family Flaviviridae and genus Flavivirus. It is the causative agent of St. Louis encephalitis (SLE), a viral disease characterized by inflammation of the brain (encephalitis). The virus is primarily transmitted to humans through the bite of infected mosquitoes, particularly Culex spp.

The SLEV infection in humans is often asymptomatic or may cause mild flu-like symptoms such as fever, headache, nausea, and vomiting. However, in some cases, the virus can invade the central nervous system, leading to severe neurological manifestations like meningitis, encephalitis, seizures, and even coma or death. The risk of severe disease increases in older adults and people with weakened immune systems.

There is no specific antiviral treatment for SLE; management typically focuses on supportive care to alleviate symptoms and address complications. Prevention measures include avoiding mosquito bites, using insect repellents, and eliminating breeding sites for mosquitoes. Vaccines are not available for SLEV, but they have been developed and tested in the past, with potential for future use in high-risk populations during outbreaks.

Individualized medicine, also known as personalized medicine, refers to the tailoring of medical treatments to the individual characteristics of each patient to optimize efficacy, minimize side effects, and improve clinical outcomes through the integration of genomic, epigenomic, proteomic, metabolomic, exposure, lifestyle, and other relevant molecular and clinical information.

Individualized medicine, also known as personalized medicine, is a medical model that uses molecular profiling and various diagnostic tests to understand the genetic and environmental variations affecting an individual's health and disease susceptibility. It aims to tailor medical treatments, including prevention strategies, diagnostics, therapies, and follow-up care, to each person's unique needs and characteristics. By incorporating genomic, proteomic, metabolomic, and other "omics" data into clinical decision-making, individualized medicine strives to improve patient outcomes, reduce adverse effects, and potentially lower healthcare costs.

Genomics is an interdisciplinary field of science that focuses on the study of structure, function, evolution, mapping, and editing of genomes, the complete set of DNA contained within a single cell of an organism.

Genomics is the scientific study of genes and their functions. It involves the sequencing and analysis of an organism's genome, which is its complete set of DNA, including all of its genes. Genomics also includes the study of how genes interact with each other and with the environment. This field of study can provide important insights into the genetic basis of diseases and can lead to the development of new diagnostic tools and treatments.

"Molecular Medicine is an area of medicine that uses molecular biology and genetics to understand, diagnose, treat, and prevent diseases at the molecular and genetic level."

Molecular medicine is a branch of medicine that uses molecular biology and genetics to understand, diagnose, and treat various diseases and disorders. It involves the study of biological molecules such as DNA, RNA, proteins, and lipids to identify abnormalities at the molecular level that can lead to disease. This information is then used to develop targeted therapies that can specifically address these molecular targets, with the goal of improving patient outcomes while minimizing side effects. Molecular medicine also encompasses the use of genetic testing and personalized medicine, which tailors treatments to an individual's specific genetic makeup.

Medical genetics is a branch of medicine that deals with the study of inherited diseases, genetic variations and anomalies, and their diagnosis, management, and counseling, aiming to improve the health and well-being of individuals and families affected by genetic conditions.

Medical genetics is the branch of medicine that involves the study of inherited conditions and diseases, as well as the way they are passed down through families. It combines elements of clinical evaluation, laboratory testing, and genetic counseling to help diagnose, manage, and prevent genetic disorders. Medical genetics also includes the study of genetic variation and its role in contributing to both rare and common diseases. Additionally, it encompasses the use of genetic information for pharmacological decision making (pharmacogenomics) and reproductive decision making (preimplantation genetic diagnosis, prenatal testing).

Infantile Refsum diseaseInfantile Refsum disease
... is less severe than Zellweger syndrome. Infantile Refsum disease is a developmental brain disorder. In ... as is adult Refsum disease, but they are different disorders that should not be confused. Infantile Refsum disease is one of ... Refsum Disease, Infantile form - 266510 Choksi, V; Hoeffner, E; Karaarslan, E; Yalcinkaya, C; Cakirer, S (2003). "Infantile ... Infantile Refsum disease can also affect the function of many other organ systems. Patients can show craniofacial abnormalities ...
https://en.wikipedia.org/wiki/Infantile_Refsum_disease
Zellweger syndromeZellweger syndrome
... and infantile Refsum disease (IRD). Although all have a similar molecular basis for disease, Zellweger syndrome is the most ... Zellweger-Syndrome at NINDS Zellweger syndrome at NIH's Office of Rare Diseases Steinberg SJ, Raymond GV, Braverman NE, et al ... 31 August 2010). "Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial". Neurology ...
https://en.wikipedia.org/wiki/Zellweger_syndrome
Peroxisomal biogenesis factor 2Peroxisomal biogenesis factor 2
Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in ...
https://en.wikipedia.org/wiki/Peroxisomal_biogenesis_factor_2
Peroxisomal disorderPeroxisomal disorder
PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger ... World Health Organization (7 December 1997). Application of the international classification of diseases to neurology: ICD-NA. ...
https://en.wikipedia.org/wiki/Peroxisomal_disorder
Zellweger spectrum disordersZellweger spectrum disorders
The subdivisions of this spectrum are hyperpipecolic acidemia, infantile Refsum disease, neonatal adrenoleukodystrophy, and ... Due to the lack of muscle tone, infants can face respiratory problems as the disease progresses.[citation needed] Zellweger ... Zellweger spectrum disorders are a group of rare disorders that create the same disease process. ... "Zellweger Spectrum Disorder". National Organization of Rare Diseases. Retrieved 20 February 2018. "Zellweger Syndrome". ...
https://en.wikipedia.org/wiki/Zellweger_spectrum_disorders
PEX6PEX6
... infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of ... and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630-5 ... Molecular Basis of Disease. 1822 (9): 1430-41. doi:10.1016/j.bbadis.2012.04.006. PMID 22871920. Braverman NE, Raymond GV, Rizzo ...
https://en.wikipedia.org/wiki/PEX6
PEX1PEX1
... infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of ... infantile Refsum disease, and Zellweger syndrome. PEX1 has been shown to interact with PEX6 and PEX26. Mutations in the genes ... and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630- ... and infantile Refsum disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (15): 8630- ...
https://en.wikipedia.org/wiki/PEX1
List of diseases (R)List of diseases (R)
... infantile form Refsum disease Reginato-Shiapachasse syndrome Regional enteritis Reifenstein syndrome Reinhardt-Pfeiffer ... This is a list of diseases starting with the letter "R". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ... Reductional transverse limb defects Reflex sympathetic dystrophy syndrome Reflux esophagitis Refractory anemia Refsum disease, ... encephalitis Ray-Peterson-Scott syndrome Raynaud's disease/phenomenon Rayner-Lampert-Rennert syndrome Reactive airway disease ...
https://en.wikipedia.org/wiki/List_of_diseases_(R)
Pipecolic acidemiaPipecolic acidemia
... including both infantile and adult Refsum disease, and Zellweger syndrome. The disorder is characterized by an increase in ... Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), as well as ... "A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation". Neurology. 43 (10): 2044-2048. doi:10.1212/wnl. ... Rare diseases, All stub articles, Genetic disorder stubs). ...
https://en.wikipedia.org/wiki/Pipecolic_acidemia
Refsum diseaseRefsum disease
Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting from ... Adult Refsum disease may be divided into the adult Refsum disease 1 and adult Refsum disease 2 subtypes. The former stems from ... Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells ... It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991). Refsum disease typically ...
https://en.wikipedia.org/wiki/Refsum_disease
Autosomal recessive cerebellar ataxiaAutosomal recessive cerebellar ataxia
Ataxia with vitamin E deficiency Abetalipoproteinemia Refsum disease Cerebrotendinous xanthomatosis Infantile Refsum disease ... Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, aka spinocerebellar ataxia, ... Xeroderma pigmentosum RIDDLE syndrome Friedreich ataxia Early-onset cerebellar ataxia with retained tendon reflexes Infantile ... autosomal recessive cerebellar ataxia Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Infantile- ...
https://en.wikipedia.org/wiki/Autosomal_recessive_cerebellar_ataxia
Glossary of medicineGlossary of medicine
The subdivisions of this spectrum are hyperpipecolic acidemia, Infantile Refsum disease, neonatal adrenoleukodystrophy (NALD), ... heart disease) and lungs (lung disease). Cardiovascular disease - (CVD), is a class of diseases that involve the heart or blood ... congenital heart disease, valvular heart disease, carditis, aortic aneurysms, peripheral artery disease, thromboembolic disease ... Coeliac disease - Coeliac disease or celiac disease is a long-term autoimmune disorder that primarily affects the small ...
https://en.wikipedia.org/wiki/Glossary_of_medicine
List of OMIM disorder codesList of OMIM disorder codes
RNF212 Refsum disease; 266500; PEX7 Refsum disease; 266500; PHYH Refsum disease, infantile form; 266510; PEX26 Refsum disease, ... infantile form; 266510; PXMP3 Refsum disease, infantile; 266510; PEX1 Renal adysplasia; 191830; UPK3A Renal agenesis; 191830; ... PSEN1 Alzheimer disease-10; 104300; AD10 Alzheimer disease-2; 104310; APOE Alzheimer disease-4; 606889; PSEN2 Alzheimer disease ... TWIST1 Salla disease; 604369; SLC17A5 Sandhoff disease, infantile, juvenile, and adult forms; 268800; HEXB Sanfilippo syndrome ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
List of ICD-9 codes 320-389: diseases of the nervous system and sense organsList of ICD-9 codes 320-389: diseases of the nervous system and sense organs
Hereditary peripheral neuropathy 356.1 Peroneal muscular atrophy 356.2 Hereditary sensory neuropathy 356.3 Refsum's disease ... Unspecified 343 Infantile cerebral palsy 343.0 Diplegic 343.1 Hemiplegic 343.2 Quadriplegic 343.3 Monoplegic 343.4 Infantile ... 335 Anterior horn cell disease 335.0 Werdnig-Hoffmann disease 335.1 Spinal muscular atrophy 335.2 Motor neurone disease 335.8 ... Myelopathy in other diseases classified elsewhere 336.8 Other myelopathy 336.9 Unspecified diseases of spinal cord 337 ...
https://en.wikipedia.org/wiki/List_of_ICD-9_codes_320–389:_diseases_of_the_nervous_system_and_sense_organs
List of MeSH codes (C10)List of MeSH codes (C10)
... charcot-marie-tooth disease MeSH C10.500.300.780 - refsum disease MeSH C10.500.300.820 - spastic paraplegia, hereditary MeSH ... infantile MeSH C10.228.140.490.380 - epilepsy, post-traumatic MeSH C10.228.140.490.450 - epilepsy, reflex MeSH C10.228.140.490. ... charcot-marie-tooth disease MeSH C10.668.829.800.300.780 - refsum disease MeSH C10.668.829.800.300.820 - spastic paraplegia, ... charcot-marie-tooth disease MeSH C10.574.500.495.780 - refsum disease MeSH C10.574.500.495.820 - spastic paraplegia, hereditary ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)
List of neurological conditions and disordersList of neurological conditions and disorders
... see Ramsay-Hunt syndrome Rasmussen encephalitis Reflex neurovascular dystrophy Refsum disease REM sleep behavior disorder ... Hypoalgesia Hypoesthesia Hypoxia Immune-mediated encephalomyelitis Inclusion body myositis Incontinentia pigmenti Infantile ... disease Paraneoplastic diseases Paroxysmal attacks Parry-Romberg syndrome Pelizaeus-Merzbacher disease Periodic paralyses ... neurological sequelae Lyme disease Machado-Joseph disease Macrencephaly Macrocephalia Macropsia Mal de debarquement ...
https://en.wikipedia.org/wiki/List_of_neurological_conditions_and_disorders
List of skin conditionsList of skin conditions
Hallopeau-Siemens disease) Refsum's disease (heredopathia atactica polyneuritiformis, phytanic acid storage disease) Relapsing ... inflammatory disease characterized by scaling on an erythematous base. Infantile seborrheic dermatitis Leiner's disease ... Adult linear IgA disease Bullous pemphigoid Bullous lupus erythematosus Childhood linear IgA disease (chronic bullous disease ... Weil's disease) Listeriosis Ludwig's angina Lupoid sycosis Lyme disease (Afzelius' disease, Lyme borreliosis) Lymphogranuloma ...
https://en.wikipedia.org/wiki/List_of_skin_conditions
Infantile Refsum disease - WikipediaInfantile Refsum disease - Wikipedia
Infantile Refsum disease is less severe than Zellweger syndrome. Infantile Refsum disease is a developmental brain disorder. In ... as is adult Refsum disease, but they are different disorders that should not be confused. Infantile Refsum disease is one of ... Refsum Disease, Infantile form - 266510 Choksi, V; Hoeffner, E; Karaarslan, E; Yalcinkaya, C; Cakirer, S (2003). "Infantile ... Infantile Refsum disease can also affect the function of many other organ systems. Patients can show craniofacial abnormalities ...
https://en.wikipedia.org/wiki/Infantile_Refsum_disease
Refsum Disease: Practice Essentials, Background, PathophysiologyRefsum Disease: Practice Essentials, Background, Pathophysiology
Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase ( ... Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in ... Infantile refsum disease in four Amish sibs. Am J Med Genet. 2000 Jan 17. 90(2):110-4. [QxMD MEDLINE Link]. ... Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh ...
https://emedicine.medscape.com/article/1114720-overview
Refsum Disease: Practice Essentials, Background, PathophysiologyRefsum Disease: Practice Essentials, Background, Pathophysiology
Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase ( ... Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in ... Infantile refsum disease in four Amish sibs. Am J Med Genet. 2000 Jan 17. 90(2):110-4. [QxMD MEDLINE Link]. ... Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh ...
https://reference.medscape.com/article/1114720-overview
Adult onset seizures in learning disability | Royal College of Physicians of EdinburghAdult onset seizures in learning disability | Royal College of Physicians of Edinburgh
Infantile Refsums disease is a peroxisome biogenesis disorder that falls within the Zellweger disorder spectrum, sharing ... The MR imaging changes seen in our patient were those typically reported in infantile Refsums disease, namely symmetrical high ... The cause of his learning disability was uncertain but a peroxisomal disorder, possibly infantile Refsums disease, had been ... Conventional and advanced MR imaging in infantile Refsums disease. Turk J Pediatr 2015; 57: 294-9. ...
https://rcpe.ac.uk/college/journal/adult-onset-seizures-learning-disability
Peroxisomal Disorders - Childrens Health Issues - MSD Manual Consumer VersionPeroxisomal Disorders - Children's Health Issues - MSD Manual Consumer Version
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum disease (IRD) These three disorders are among a ... Zellweger syndrome is the most severe form, and infantile Refsum disease is the least severe form. ... Refsum disease In this disorder, phytanic acid, which is a product of fat metabolism, accumulates in tissues. A buildup of ... Refsum disease occurs later, even in adulthood in some people. Symptoms of these disorders may include distinctive facial ...
https://www.msdmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/peroxisomal-disorders
PEDIATRIC NEURORADIOLOGY | American Journal of Neuroradiology
Dubois J, Sebag G, Argyropoulou M, Brunelle F. MR findings in infantile Refsum disease: case report of two family members. AJNR ... Names like Pelizaeus-Merzbacher disease, Leigh disease, oculocerebrorenal disease, and Menkes disease began cropping up with ... Deceptively normal MR in early infantile Krabbe disease. AJNR Am J Neuroradiol 1994;15:167-171. ... Reports on the MR imaging findings in phenylketonuria, Refsum disease, glutaric and methylmalonic acidurias emerged that would ...
https://www.ajnr.org/content/21/1/29.full
JCI - Usage information: Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.
... and infantile Refsum disease are autosomal recessive diseases, where catalase-containing particles (peroxisomes) are ... that resemble the fibroblasts from patients with such diseases, in their defective peroxisome assembly (Tsukamoto, T., S. ... relevant animal cell model for studies on the molecular bases and primary defects of human peroxisome-deficient diseases. ...
https://www.jci.org/articles/view/116063/usage
International Classification of Diseases - Endocrine, Nutritional and Metabolic Diseases, and Immunity DisordersInternational Classification of Diseases - Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders
... infantile Refsum disease (356.3) 277.87 Disorders of mitochondrial metabolism Kearns-Sayre syndrome Mitochondrial ... DISEASES OF THE BLOOD AND BLOOD-FORMING ORGANS ( TABLE OF CONTENTS Preface Acknowledgments Introduction The ICD-9-CM ... Glucose-6-phosphatase deficiency Glycogen storage disease McArdles disease Pompes disease von Gierkes disease 271.1 ... The Disease Classification Alphabetical Index of Diseases Table of Drugs and Chemicals Index To External Causes of Injury (E ...
https://theodora.com/diseases/endocrine_nutritional_metabolic_immunity.html
Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder. | Journal of Medical...
... and infantile Refsums disease (IRD) are autosomal recessive disorders associated with a failure to assemble mature peroxisomes ...
https://jmg.bmj.com/content/33/4/295
Zellweger SyndromeZellweger Syndrome
Other peroxisome biogenesis disorders are Infantile Refsum disease, neonatal adrenoleukodystrophy and rhizomelic ... Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases that share dysfunction of peroxisomes. ... Of all the above mentioned peroxisomal disorders infantile Refsum disease is the least severe form of the disease. The disorder ... Other peroxisome biogenesis disorders are Infantile Refsum disease, neonatal adrenoleukodystrophy and rhizomelic ...
https://www.healthcaremagic.com/articles/Zellweger-Syndrome/7064
PEX1 Antibody (NBP1-80577): Novus BiologicalsPEX1 Antibody (NBP1-80577): Novus Biologicals
Infantile Refsum Disease, Zellweger syndrome-1, refsum disease, neonatal adrenoleukodystrophy, adrenoleukodystrophy, peroxisome ... Diseases for PEX1 Antibody (NBP1-80577). Discover more about diseases related to PEX1 Antibody (NBP1-80577). ... Discover related pathways, diseases and genes to PEX1 Antibody (NBP1-80577). Need help? Read the Bioinformatics Tool Guide for ... This protein is currently being studied for research on the following disease and disorders: Zellweger syndrome, peroxisomal ...
https://www.novusbio.com/products/pex1-antibody_nbp1-80577
hypotony | Hereditary Ocular Diseaseshypotony | Hereditary Ocular Diseases
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. Goez H, Meiron D, Horowitz J, ... Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. Goez H, Meiron D, Horowitz J, ... Peroxisome Biogenesis Disorder 3B (Infantile Refsum Disease). Clinical Characteristics. Ocular Features: This peroxisomal ... Genetic relation between the Zellweger syndrome, infantile Refsums disease, and rhizomelic chondrodysplasia punctata. Wanders ...
https://disorders.eyes.arizona.edu/category/clinical-features/hypotony
MeSH BrowserMeSH Browser
Infantile Refsum Disease Infantile Refsums Disease Refsum Disease, Infantile Form Refsums Disease, Infantile Previous ... REFSUM DIS INFANTILE. Entry Term(s). Infantile Form of Phytanic Acid Storage Disease Infantile Phytanic Acid Storage Disease ... Refsum Disease, Infantile Preferred Concept UI. M0028263. Scope Note. An early onset form of phytanic acid storage disease with ... Nervous System Diseases [C10] * Central Nervous System Diseases [C10.228] * Brain Diseases [C10.228.140] * Brain Diseases, ...
https://meshb.nlm.nih.gov/record/ui?ui=D052919
Plasma and red blood cell fatty acids in peroxisomal disorders<...
... and infantile Refsum disease (IRD), both at baseline and after dietary interventions. Lorenzos Oil therapy in X-ALD ... and infantile Refsum disease (IRD), both at baseline and after dietary interventions. Lorenzos Oil therapy in X-ALD ... and infantile Refsum disease (IRD), both at baseline and after dietary interventions. Lorenzos Oil therapy in X-ALD ... and infantile Refsum disease (IRD), both at baseline and after dietary interventions. Lorenzos Oil therapy in X-ALD ...
https://pure.psu.edu/en/publications/plasma-and-red-blood-cell-fatty-acids-in-peroxisomal-disorders
Bio2Vec
infantile Refsum disease DOID:0050444 * argininosuccinic aciduria DOID:14755 * congenital bile acid synthesis defect ... A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are ...
https://bio2vec.cbrc.kaust.edu.sa/bio2vec/details/1?iri=DOID:3649
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Refsum disease, infantile form From NCATS Genetic and Rare Diseases Information Center ... Selected Rare Diseases. Browse full list of rare diseases A-Z *Alpha-1 Antitrypsin Deficiency ... Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it ...
https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=rare&query=Refsum+disease,+infantile+form
Refsum Disease Medication: Keratolytics
Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase ( ... Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in ... Infantile refsum disease in four Amish sibs. Am J Med Genet. 2000 Jan 17. 90(2):110-4. [QxMD MEDLINE Link]. ... encoded search term (Refsum Disease) and Refsum Disease What to Read Next on Medscape ...
https://emedicine.dev01.medscape.com/article/1114720-medication
Refsum Disease: Background, Pathophysiology, Epidemiology
Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase ( ... Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in ... 1] Infantile Refsum disease is a peroxisome biogenesis disorder. [2] Refsum first described this disease in 1946. Peripheral ... Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh ...
https://reference.dev01.medscape.com/article/1114720-overview
June | 2022 | Strive For Good Health
... and infantile Refsum disease is the mildest form. Zellweger spectrum disorders can affect most organs of the body. Neurological ... About 659,000 people in the United States die from heart disease each year-thats 1 in every 4 deaths. Heart disease costs the ... Have a chronic lung disease such as emphysema or another serious condition such as diabetes, kidney disease or cancer.. ·Are 50 ... If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but ...
http://www.striveforgoodhealth.com/archives/date/2022/06
Conditions related toConditions related to
... and infantile Refsum disease is the mildest form. Zellweger spe Read More ... Bowens disease. Bowen disease is a rare skin disorder. Affected individuals develop a slow-growing, reddish scaly patch or ... Carcinoid disease. Carcinoid syndrome is a disease consisting of a combination of symptoms, physical manifestations, and ... Neuroblastoma is a disease in which malignant (cancer) cells form in nerve tissue of the adrenal gland, neck, chest, or spinal ...
https://cancerhealthcenter.com/symptoms/?lang=en
Refsum Disease - Causes, Pathophysiology and ComplicationsRefsum Disease - Causes, Pathophysiology and Complications
Refsum disease is a genetic disorder that affects the metabolism of the fatty acid phytanic acid. When phytanic acid ... Infantile Refsum disease makes its appearance in early infancy.. Refsum Disease Pathophysiology. Refsum disease is associated ... Causes of Refsum Disease. In 90% of the cases, Refsum disease is due to a mutation in the PHYH gene (in chromosome 10). The ... Symptoms of Refsum Disease. The most common symptoms of Refsum disease include:. Retinitis pigmentosa: Retinitis pigmentosa is ...
https://diseasesdic.com/refsum-disease-causes-pathophysiology-and-complications/
Refsum Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessAnesthesiology | McGraw Hill MedicalRefsum Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessAnesthesiology | McGraw Hill Medical
This results in the infantile Refsum disease (see below).. +++. Diagnosis. ++. Usually evocated and diagnosed during childhood ... Refsum disease (adults form) is caused by mutations in the gene encoding phytanoyl-CoA hydroxylase (PHYH) on 10p13 resulting in ... "Refsum Syndrome." Syndromes: Rapid Recognition and Perioperative Implications, 2e Bissonnette B, Luginbuehl I, Engelhardt T. ... Refsum Syndrome. In: Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & Engelhardt T(Eds.),Eds. Bruno ...
https://accessanesthesiology.mhmedical.com/content.aspx?bookid=2674§ionid=220543085
Genetics and Genomic Medicine | St. Louis Childrens HospitalGenetics and Genomic Medicine | St. Louis Children's Hospital
Infantile Refsums Disease. Related Programs & Services. *Down Syndrome Center. *Skeletal Dysplasia Services ... Our team treats a wide variety of genetic diseases, including:. * Genetic/congenital syndromes, such as fragile X syndrome and ... Croup is a common disease caused by an infection in the upper airway. Children with croup often have coughs that ... ... Cytogenetic disorders, or, diseases that affect chromosomes, such as Down syndrome or trisomy 18 or 13 ...
https://www.stlouischildrens.org/conditions-treatments/genetics-and-genomic-medicine
Zellweger Syndrome Disease: Causes, Symptoms, Diagnosis, TreatmentZellweger Syndrome Disease: Causes, Symptoms, Diagnosis, Treatment
Zellweger Syndrome Disease is a genetic disorder found in newborns. it is the most serious and rare of the four types in the ... Infantile Refsum disease causes muscle movement issues and delays a babys growth. ... How can Zellweger disease be prevented?. The disorder is not preventable as it is passed from parents to the children. A ... These diseases affect peroxisomes and are also called peroxisomal biogenesis disorders. Peroxisomes are parts of cells that are ...
https://healthlibrary.askapollo.com/what-is-zellweger-syndrome-how-common-is-it/
PubMed for id: 11161 - Search Results - PubMedPubMed for id: 11161 - Search Results - PubMed
PEX6 Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review. Slanina AM, Coman AE, Anton- ... Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid. ... Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease ... Refsum Disease. Kumar R, De Jesus O. Kumar R, et al. 2023 Aug 23. In: StatPearls [Internet]. Treasure Island (FL): StatPearls ...
https://pubmed.ncbi.nlm.nih.gov/?from_uid=11161&linkname=medgen_pubmed
Coriell Institute for Medical ResearchCoriell Institute for Medical Research
REFSUM DISEASE, INFANTILE FORM 2403 results - View Results *Search Help?. Repository:. * NIGMS Human Genetic Cell Repository ( ...
https://www.coriell.org/Search?q=PEROXISOME%20BIOGENESIS%20DISORDER%203B
Free Legit & Rage Cheats | Fake Lag, Mods, Legacy - EL POSTREFree Legit & Rage Cheats | Fake Lag, Mods, Legacy - EL POSTRE
Infantile phytanic acid storage disease, a possible variant valorant rage cheat Refsums disease: Three cases, including ... be it in treatment of a disease, or for general health. Curious about the possibilities for a complete customized catering in ... as exemplified by mutations in genes regulating this pathway causing biliary disease in humans 52 and zebrafish. Its product ...
https://elpostrebodas.es/free-legit-rage-cheats-fake-lag-mods-legacy/
PEX1 antibodies | AntibodypediaPEX1 antibodies | Antibodypedia
... infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [ ... Disease related genes. Human disease related genes. Mapped to neXtProt. Mapped to UniProt SWISS-PROT. Plasma proteins. ...
https://www.antibodypedia.com/gene/15612/PEX1
Motor axonal neuropathy[Clinical Features] OR 413108[uid] - MedGen -..."Motor axonal neuropathy"[Clinical Features] OR 413108[uid] - MedGen -...
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder ... Charcot-Marie-Tooth disease X-linked recessive 4. X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ... Charcot-Marie-Tooth disease, axonal, IIa 2II. Axonal Charcot-Marie-Tooth disease type 2II (CMT2II) is an autosomal dominant ... They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A ...
https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/medgen?term=%22Motor%20axonal%20neuropathy%22%5BClinical%20Features%5D%20OR%20413108%5Buid%5D
Brain atrophy[Clinical Features] OR 1643639[uid] - MedGen -..."Brain atrophy"[Clinical Features] OR 1643639[uid] - MedGen -...
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder ... Most individuals with Canavan disease have the neonatal/infantile form. Although such infants appear normal early in life, by ... With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, ... Charcot-Marie-Tooth disease type 4B3. A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly ...
https://https.ncbi.nlm.nih.gov/medgen?term=%22Brain%20atrophy%22%5BClinical%20Features%5D%20OR%201643639%5Buid%5D
Neonatal adrenoleukodystrophyZellwegerBiogenesisMouse model for Refsum diseaseDisorderCombination docosahexaenoic acid and cholic acidPhytanic Acid Storage DiseaseSyndromePhytanoyl-CoA hydroxyOnsetPeroxisomesAdultOMIMMetabolicDisordersPHYHRefsum's DiseasePhenotypeMetabolismSevereRetinitisGenetically heterogeneousGeneSymptomsManifestsFormLysosomal StorageMolecularDefectsInfancyLiverDeficiencyDefectiveInfectious diseasesPrimaryCanavanClinicalCenters
Neonatal adrenoleukodystrophy6
  • Generalized peroxisome-deficient disorders including cerebro-hepato-renal Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease are autosomal recessive diseases, where catalase-containing particles (peroxisomes) are morphologically absent. (jci.org)
  • Other peroxisome biogenesis disorders are Infantile Refsum disease, neonatal adrenoleukodystrophy and rhizomelic chondrodysplasia. (healthcaremagic.com)
  • We report the levels of 62 fatty acids and plasmalogens in patients with X- linked adrenoleukodystrophy (X-ALD), Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), both at baseline and after dietary interventions. (psu.edu)
  • Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. (antibodypedia.com)
  • Preliminary evidence suggests that people with a variety of rare but related congenital diseases (Zellweger's syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease) may be DHA-deficient, and may even benefit from DHA supplementation. (eurovital.com)
  • Although they share a similar name, X-linked ALD and neonatal adrenoleukodystrophy (NALD), a peroxisome biogenesis disorder, are completely different diseases. (findmeacure.com)
Zellweger5
  • Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. (wikipedia.org)
  • Infantile Refsum disease is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD). (wikipedia.org)
  • Although they share a similar molecular basis for disease, Infantile Refsum disease is less severe than Zellweger syndrome. (wikipedia.org)
  • Infantile Refsum's disease is a peroxisome biogenesis disorder that falls within the Zellweger disorder spectrum, sharing similar clinical and biochemical features but the clinical picture is less severe such that some patients survive to adulthood. (rcpe.ac.uk)
  • The generalised peroxisomal disorders (GPDs) Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD), and infantile Refsum's disease (IRD) are autosomal recessive disorders associated with a failure to assemble mature peroxisomes. (bmj.com)
Biogenesis5
  • Late onset white matter disease in peroxisome biogenesis disorder. (rcpe.ac.uk)
  • Refsum disease can be classified as a peroxisome biogenesis disorder. (medscape.com)
  • [ 1 ] Infantile Refsum disease is a peroxisome biogenesis disorder. (medscape.com)
  • An infantile form of Refsum disease also exists and is an autosomal recessive disorder of peroxisomal biogenesis, leading to many biochemical abnormalities, including elevated plasma concentration of phytanic acid, pristanic acid, very long chain fatty acids, and C27 bile acids. (medscape.com)
  • These diseases affect peroxisomes and are also called peroxisomal biogenesis disorders. (askapollo.com)
Mouse model for Refsum disease2
  • Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. (medscape.com)
  • Recently, a mouse model for Refsum disease ( Phyh knockout mouse by targeted disruption of the PHYH gene). (medscape.com)
Disorder10
  • Infantile Refsum disease is a developmental brain disorder. (wikipedia.org)
  • Infantile Refsum disease is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for normal peroxisome assembly. (wikipedia.org)
  • The cause of his learning disability was uncertain but a peroxisomal disorder, possibly infantile Refsum's disease, had been suspected because of early onset blindness although metabolic investigations in childhood had been nondiagnostic. (rcpe.ac.uk)
  • Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. A novel Refsum-like disorder that maps to chromosome 20. (medscape.com)
  • Refsum disease is a recessive disorder characterized by defective peroxisomal alpha-oxidation of phytanic acid. (medscape.com)
  • Refsum disease is a genetic disorder that affects the metabolism of the fatty acid phytanic acid. (diseasesdic.com)
  • Hence, they concluded that Refsum disease is a true peroxisomal disorder type, unlike other variants. (diseasesdic.com)
  • The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). (beds.ac.uk)
  • X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4) is a mitochondrial disorder manifest as progressive neurologic dysfunction with highly variable features. (beds.ac.uk)
  • FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. (nih.gov)
Combination docosahexaenoic acid and cholic acid2
  • A phytanic acid-restricted diet and combination docosahexaenoic acid and cholic acid therapy may inhibit disease progression. (medscape.com)
  • Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid. (nih.gov)
Phytanic Acid Storage Disease2
  • An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE . (nih.gov)
  • Then, on July 7, , the nation's 9th president was buried in a family tomb at the summit of Mt. Infantile phytanic acid storage disease, a possible variant hunt showdown aim lock Refsum's disease: Three cases, including ultrastructural studies of the liver. (aeemployment.com)
Syndrome5
  • Currently, there is no cure for infantile Refsum disease syndrome, nor is there a standard course of treatment. (wikipedia.org)
  • Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. (medscape.com)
  • The Norwegian neurologist Sigvald B. Refsum (1907-1991) described this syndrome in 1945. (mhmedical.com)
  • Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. (beds.ac.uk)
  • When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic screening and actionable results are essential . (questwomenshealth.com)
Phytanoyl-CoA hydroxy6
  • Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (medscape.com)
  • Foulon V, Asselberghs S, Geens W, Mannaerts GP, Casteels M, Van Veldhoven PP. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (medscape.com)
  • Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (medscape.com)
  • Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. (medscape.com)
  • [ 7 ] A Refsum disease gene, phytanoyl-CoA hydroxylase ( PHYH ), has been localized to band 10p13 between the markers D10S226 and D10S223. (medscape.com)
  • Refsum disease (adults form) is caused by mutations in the gene encoding phytanoyl-CoA hydroxylase (PHYH) on 10p13 resulting in accumulation of exogenous phytanic acid (milk, fat of cows and sheep) in blood plasma and tissues. (mhmedical.com)
Onset5
  • However, a patient was described with rare late-onset adult disease first evident at age 72 years. (diseasesdic.com)
  • With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, seizures, and feeding difficulties. (nih.gov)
  • The disease progresses slowly following the onset of neurologic symptoms. (nih.gov)
  • They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. (beds.ac.uk)
  • Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. (medscape.com)
Peroxisomes3
  • Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases that share dysfunction of peroxisomes. (healthcaremagic.com)
  • Singh I, Pahan K, Singh AK, Barbosa E. Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. (medscape.com)
  • Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role of phytanic acid alpha-oxidation in peroxisomes have been shown to be responsible for some, but not all, cases of Refsum's disease. (diseasesdic.com)
Adult5
  • IRD is associated with deficient phytanic acid catabolism, as is adult Refsum disease, but they are different disorders that should not be confused. (wikipedia.org)
  • Phenotype of adult Refsum disease due to a defect in peroxin 7. (medscape.com)
  • Based on the above, it was proposed that adult Refsum disease could be divided into types 1 and 2, depending on which gene is defective. (medscape.com)
  • Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis. (nih.gov)
  • This is an observational registry database for adult patients diagnosed with degenerative spine disorders, which aims to add information to the understanding of the disease management of this spine diseases. (umn.edu)
OMIM1
  • Online Mendelian Inheritance in Man (OMIM): Refsum Disease, Classic - 266500 Steinberg, S. (wikipedia.org)
Metabolic2
  • The aim of this programme is to screen all babies born in Singapore for metabolic and heritable diseases. (kkh.com.sg)
  • Although metabolic diseases are rare individually, cumulatively, the incidence rate may be as high as 1:3,000-3,500 in some categories of metabolic diseases. (kkh.com.sg)
Disorders5
  • citation needed] In addition to genetic tests involving PEX genes, biochemical tests have proven highly effective for the diagnosis of infantile Refsum disease and other peroxisomal disorders. (wikipedia.org)
  • Of all the above mentioned peroxisomal disorders infantile Refsum disease is the least severe form of the disease. (healthcaremagic.com)
  • Refsum's disease revealed by cardiac disorders. (medscape.com)
  • These disorders are now classified as different expressions (variants) of one disease process. (cancerhealthcenter.com)
  • ALD is a disease in a group of genetic disorders called leukodystrophies. (findmeacure.com)
PHYH1
  • In 90% of the cases, Refsum disease is due to a mutation in the PHYH gene (in chromosome 10). (diseasesdic.com)
Refsum's Disease5
  • Owing to the uncertainty about the underlying diagnosis, and because seizures do not appear to be a typical clinical feature in infantile Refsum's disease, 1,2 further investigation was indicated. (rcpe.ac.uk)
  • A, p.Gly843Asp, and c.2916delA, p.Gly973AlafsTer16, confirming the diagnosis of infantile Refsum's disease. (rcpe.ac.uk)
  • The MR imaging changes seen in our patient were those typically reported in infantile Refsum's disease, namely symmetrical high signal change in periventricular white matter with sparing of subcortical U fibres and pronounced central cerebellar demyelination. (rcpe.ac.uk)
  • 6 The imaging changes in our patient were not as florid as reported in some childhood cases, perhaps associated with his long survival, but nevertheless contributed to establishing the diagnosis of infantile Refsum's disease prior to confirmation by genetic testing. (rcpe.ac.uk)
  • Conventional and advanced MR imaging in infantile Refsum's disease. (rcpe.ac.uk)
Phenotype1
  • In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. (nih.gov)
Metabolism1
  • Wanders RJ, Komen J, Ferdinandusse S. Phytanic acid metabolism in health and disease. (medscape.com)
Severe1
  • As it is the most severe form of the disease it results in death within the first year of the birth. (healthcaremagic.com)
Retinitis2
  • Retinitis pigmentosa is an expression of degenerative eye disease as the visual receptors are lost in the retina and the background structure of the eye is exposed. (diseasesdic.com)
  • Most children with mild forms of Canavan disease have normal head size, although macrocephaly, retinitis pigmentosa, and seizures have been reported in a few individuals. (nih.gov)
Genetically heterogeneous1
  • [ 8 ] Refsum disease is genetically heterogeneous, with up to 55% of cases not being linked to the PAHX gene locus at D10S547 to D10S223. (medscape.com)
Gene4
  • A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
  • Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. (medscape.com)
  • X-linked ALD primarily affects males, but about one in five women with the disease gene develop some symptoms. (findmeacure.com)
  • Because women have two X chromosomes, they have a spare normal gene as well as the abnormal one, so generally only carry the condition (although they may have a mild form of the disease). (findmeacure.com)
Symptoms1
  • Diseases Treatments Dictionary This is complete solution to read all diseases treatments Which covers Prevention, Causes, Symptoms, Medical Terms, Drugs, Prescription, Natural Remedies with cures and Treatments. (diseasesdic.com)
Manifests1
  • The disease presents in the first year of life and manifests with developmental delay, visual and hearing disturbances, and dysmorphic features. (medscape.com)
Form6
  • Adrenomyeloneuropathy (AMN) is a milder form of this disease that occurs in a person's 20s or 30s. (msdmanuals.com)
  • Anal cancer is a disease in which malignant (cancer) cells form in the tissues of the anus. (cancerhealthcenter.com)
  • Collectively, they form a spectrum or continuum of disease. (cancerhealthcenter.com)
  • and infantile Refsum disease is the mildest form. (cancerhealthcenter.com)
  • Most individuals with Canavan disease have the neonatal/infantile form. (nih.gov)
  • There are several different types of the disease which can be inherited, but the most common form is an X-linked condition. (findmeacure.com)
Lysosomal Storage3
  • Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • This graph shows the total number of publications written about "Lysosomal Storage Diseases, Nervous System" by people in this website by year, and whether "Lysosomal Storage Diseases, Nervous System" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (childrensmercy.org)
Molecular3
  • These CHO cell mutants are an apparently relevant animal cell model for studies on the molecular bases and primary defects of human peroxisome-deficient diseases. (jci.org)
  • Enzymological and molecular basis of classical Refsum disease. (medscape.com)
  • Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
Defects1
  • Tran D, Greenhill W, Wilson S. Infantile refsum disease with enamel defects: a case report. (medscape.com)
Infancy2
  • Infantile Refsum disease makes its appearance in early infancy. (medscape.com)
  • Breastfeeding and the risk of hospitalization for respiratory disease in infancy: a meta-analysis. (najms.com)
Liver1
  • PAHX activity was undetectable in the liver tissue of a Refsum disease patient. (diseasesdic.com)
Deficiency1
  • Some scientists have suggested that serious degenerative diseases may be due, at least partly, to prolonged deficiency in DHA. (eurovital.com)
Defective1
  • We previously isolated two Chinese hamster ovary (CHO) cell mutants (Z24 and Z65) that resemble the fibroblasts from patients with such diseases, in their defective peroxisome assembly (Tsukamoto, T., S. Yokota, and Y. Fujiki. (jci.org)
Infectious diseases1
  • However, in some cases, you may be referred to a doctor who specializes in treating lung disease (pulmonologist) or infectious diseases, or you may be advised to go to an emergency department. (striveforgoodhealth.com)
Primary1
  • Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). (beds.ac.uk)
Canavan1
  • Children with mild/juvenile Canavan disease may have normal or mildly delayed speech or motor development early in life without regression. (nih.gov)
Clinical2
  • Data from this registry may be used to generate descriptive statistics on demographics, and clinical characteristics, including co-morbidities, treatment patterns and adverse outcomes (resulting from treatment or disease), as well as patients' quality of life measurements. (umn.edu)
  • Electrophysiological testing of patients with retinal disease began in clinical departments in the late nineteen forties. (org.es)
Centers2
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • Analysis of longitudinal data from the Centers for Disease Control and Prevention Pediatric Nutrition Surveillance System. (najms.com)