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
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
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
Coenzyme A
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.
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein. (1/54)
FKBP52 (FKBP59, FKBP4) is a "macro" immunophilin that, although sharing high structural and functional homologies in its amino-terminal domain with FKBP12 (FKBP1), does not have immunosuppressant activity when complexed with FK506, unlike FKBP12. To investigate the physiological function of FKBP52, we used the yeast two-hybrid system as an approach to find its potential protein partners and, from that, its cellular role. This methodology, which already has allowed us to find the FK506-binding protein (FKBP)-associated protein FAP48, also led to the detection of another FKBP-associated protein. Determination of the sequence of this protein permitted its identification as phytanoyl-CoA alpha-hydroxylase (PAHX), a peroxisomal enzyme that so far was unknown as an FKBP-associated protein. Inactivation of this enzyme is responsible for Refsum disease in humans. The protein also corresponds to the mouse protein LN1, which could be involved in the progress of lupus nephritis. We show here that PAHX has the physical capacity to interact with the FKBP12-like domain of FKBP52, but not with FKBP12, suggesting that it is a particular and specific target of FKBP52. Whereas the binding of calcineurin to FKBP12 is potentiated by FK506, the specific association of PAHX and FKBP52 is maintained in the presence of FK506. This observation suggests that PAHX is a serious candidate for studying the cellular signaling pathway(s) involving FKBP52 in the presence of immunosuppressant drugs. (+info)Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. (2/54)
Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid), a branched chain fatty acid accumulating in Refsum disease to high levels throughout the body, induces uncoupling of rat liver mitochondria similar to non-branched fatty acids (e.g. palmitic acid), but the contribution of the ADP/ATP carrier or the aspartate/glutamate carrier in phytanic acid-induced uncoupling is of minor importance. Possible deleterious effects of phytanic acid on membrane-linked energy coupling processes were studied by ESR spectroscopy using rat liver mitochondria and a membrane preparation labeled with the lipid-specific spin probe 5-doxylstearic acid (5-DSA) or the protein-specific spin probe MAL-TEMPO (4-maleimido-2,2,6, 6-tetramethyl-piperidine-1-oxyl). The effects of phytanic acid on phospholipid molecular dynamics and on the physical state of membrane proteins were quantified by estimation of the order parameter or the ratio of the amplitudes of the weakly to strongly immobilized MAL-TEMPO binding sites (W/S ratio), respectively. It was found, that phytanic acid (1) increased the mobility of phospholipid molecules (indicated by a decrease in the order parameter) and (2) altered the conformational state and/or the segmental mobility of membrane proteins (indicated by a drastic decrease in the W/S ratio). Unsaturated fatty acids with multiple cis-double bonds (e.g. linolenic or arachidonic acid), but not non-branched FFA (ranging from chain length C10:0 to C18:0), also decrease the W/S ratio. It is hypothesized that the interaction of phytanic acid with transmembrane proteins might stimulate the proton permeability through the mitochondrial inner membrane according to a mechanism, different to a protein-supported fatty acid cycling. (+info)Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (3/54)
Refsum's disease (RD) is an inherited neurological syndrome biochemically characterized by the accumulation of phytanic acid in plasma and tissues. Patients with RD are unable to degrade phytanic acid due to a deficient activity of phytanoyl-CoA hydroxyl-ase (PhyH), a peroxisomal enzyme catalysing the first step of phytanic acid alpha-oxidation. To enable mutation analysis of RD at the genome level, we have elucidated the genomic organization of the PHYH gene. The gene is approximately 21 kb and contains nine exons and eight introns. Mutation analysis of PHYH cDNA from 22 patients with RD revealed 14 different missense mutations, a 3 bp insertion, and a 1 bp deletion, which were all confirmed at the genome level. A 111 bp deletion identified in the PHYH cDNA of several patients with RD was due to either one of two different mutations in the same splice acceptor site, which result in skipping of exon 3. Six mutations, including a large in-frame deletion and five missense mutations, were expressed in the yeast Saccharomyces cerevisiae to study their effect on PhyH activity. The results showed that all these mutations lead to an enzymatically inactive PhyH protein. (+info)Identification of genetic heterogeneity in Refsum's disease. (4/54)
Refsum's disease (MIM 266500) is a recessive disorder characterised by defective peroxisomal alpha-oxidation of phytanic acid. A Refsum's disease gene, phytanoyl-CoA hydroxylase (PAHX), has been localised to chromosome 10p13 between the markers D10S226-D10S223. This study investigated whether all cases of Refsum's disease were linked with chromosome 10p13. Eight genetically informative families comprising 92 individuals including 17 living patients with a Refsum's disease phenotype and initial plasma phytanic acid > 200 micromol/L were recruited. Linkage to the 10pter-10p11.2 region was investigated using a panel of eight dinucleotide repeat markers. Linkage analysis of this phenotypically identical cohort suggested that Refsum's disease was genetically heterogeneous (Zmax = 5.28, alpha = 0.45). Two subgroups were identified. One group of four families with eight affected individuals had a maximum multipoint lod score for linkage of 3.89 in the region D10S547 to D10S191, whilst in another three families with nine affected individuals linkage to this region was definitely excluded. Our results show that Refsum's disease is genetically heterogeneous, with up to 55% of cases not being linked to the PAHX gene locus at D10S547 to D10S223. This suggests that Refsum's disease, in common with other peroxisomal 'diseases', may be more accurately described as a heterogeneous syndrome. (+info)Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders. (5/54)
Peroxisome biogenesis disorders (PBD) are classified into Zellweger syndrome (ZS), infantile Refsum disease (IRD) and neonatal adrenoleukodystrophy. Disturbances in the differentiation of neural cells such as migration arrest are characteristic of PBD. So far the pathogenesis of these disturbances is not clearly understood. We describe an altered metabolism of glycosphingolipids in PBD which has not yet been investigated. We observed an increased amount of a-series gangliosides, GM2, GM1 and GD1a, in the fibroblasts of patients with ZS and IRD. Gangliosides GM1 and GD1a were not present in detectable amounts in normal subjects. A key step in the synthesis of a-series gangliosides is a transfer of GalNAc to ganglioside GM3, so we determined the level of ganglioside GM3 by immunohistochemical methods. We found a granular structure, which was positive toward anti-ganglioside GM3 antibody in the cytoplasm of the patients' fibroblasts. In control cells, the cell membrane was slightly positive toward anti-GM3 antibody. These results may help to clarify the pathogenesis of PBD with respect to the functional roles of glycosphingolipids in cell differentiation, proliferation and apoptosis. (+info)Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. (6/54)
Refsum's disease is a neurological syndrome characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy and phytanic acidaemia. Many cases are caused by mutations in peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PAHX) which catalyses the initial alpha-oxidation step in the degradation of phytanic acid. Both pro and mature forms of recombinant PAHX were produced in Escherichia coli, highly purified, and shown to have a requirement for iron(II) as a co-factor and 2-oxoglutarate as a co-substrate. Sequence analysis in the light of crystallographic data for other members of the 2-oxoglutarate-dependent oxygenase super-family led to secondary structural predictions for PAHX, which were tested by site-directed mutagenesis. The H175A and D177A mutants did not catalyse hydroxylation of phytanoyl-CoA, consistent with their assigned role as iron(II) binding ligands. The clinically observed P29S, Q176K, G204S, N269H, R275Q and R275W mutants were assayed for both 2-oxoglutarate and phytanoyl-CoA oxidation. The P29S mutant was fully active, implying that the mutation resulted in defective targeting of the protein to peroxisomes. Mutation of Arg-275 resulted in impaired 2-oxoglutarate binding. The Q176K, G204S and N269H mutations caused partial uncoupling of 2-oxoglutarate conversion from phytanoyl-CoA oxidation. The results demonstrate that the diagnosis of Refsum's disease should not solely rely upon PAHX assays for 2-oxoglutarate or phytanoyl-CoA oxidation. (+info)Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. (7/54)
Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alter membrane composition and structure, thereby affecting membrane function(s). The anti-metabolite hypothesis suggests that an accumulation of phytanic acid in membranes may interfere with vitamin E function. These two hypotheses were investigated by studying the effects of modulating phytanic acid and alpha-tocopherol concentrations on the fatty acid composition and certain physical parameters of cultured retinal cells. Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity, (c) there was no competition for uptake between phytanic acid and alpha-tocopherol, and (d) the incorporation of phytanic acid did not increase the susceptibility of membranes to lipid peroxidation in vitro. These results obtained with cultured retinal cells suggest that the molecular distortion hypothesis, but not the anti-metabolite hypothesis, could explain the pathogenesis of adult Refsum disease. In vitro tissue culture models can, however, only approximate to the much more complex situation that occurs in vivo. (+info)Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. (8/54)
Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid derived from dietary sources and broken down in the peroxisome to pristanic acid (2,6,10,14-tetramethylpentadecanoic acid) via alpha-oxidation. Pristanic acid then undergoes beta-oxidation in peroxisomes. Phytanic acid naturally occurs as a mixture of (3S,7R,11R)- and (3R,7R,11R)-diastereomers. In contrast to the alpha-oxidation system, peroxisomal beta-oxidation is stereospecific and only accepts (2S)-isomers. Therefore, a racemase called alpha-methylacyl-CoA racemase is required to convert (2R)-pristanic acid into its (2S)-isomer. To further investigate the stereochemistry of the peroxisomal oxidation systems and their substrates, we have developed a method using gas-liquid chromatography-mass spectrometry to analyze the isomers of phytanic, pristanic, and trimethylundecanoic acid in plasma from patients with various peroxisomal fatty acid oxidation defects. In this study, we show that in plasma of patients with a peroxisomal beta-oxidation deficiency, the relative amounts of the two diastereomers of pristanic acid are almost equal, whereas in patients with a defect of alpha-methylacyl-CoA racemase, (2R)-pristanic acid is the predominant isomer. Furthermore, we show that in alpha-methylacyl-CoA racemase deficiency, not only pristanic acid accumulates, but also one of the metabolites of pristanic acid, 2610-trimethylundecanoic acid, providing direct in vivo evidence for the requirement of this racemase for the complete degradation of pristanic acid. (+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.
Refsum disease
Adult Refsum disease may be divided into the adult Refsum disease 1 and adult Refsum disease 2 subtypes. The former stems from ... Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting 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 ...
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 ... Infantile Refsum disease can also affect the function of many other organ systems. Patients can show craniofacial abnormalities ... Infantile Refsum disease is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins ...
Sigvald Bernhard Refsum
Refsum disease is named after him. Cohen, M M; Didaver, D (1992). "The man behind the syndrome: Sigvald Refsum". Journal of the ... Sigvald Refsum studied medicine at University of Oslo and obtained his doctorate in 1946. He taught in University of Bergen ... Sigvald Bernhard Refsum (8 May 1907, Gransherad - 8 July 1991, Oslo) was a Norwegian neurologist and university teacher. ... "Sigvald Bernhard Refsum". Store norske leksikon (in Norwegian). Retrieved 9 December 2017. Larsen, Øivind. "Sigvald Bernhard ...
Alpha-methylacyl-CoA racemase
Wanders RJ, Waterham HR, Leroy BP (2006-03-20). "Adult Refsum Disease". Refsum Disease. PMID 20301527. Retrieved 2009-03-16. {{ ... The symptoms are similar to those of adult Refsum disease and usually appear in the late teens or early twenties. The first ... Both decreased and increased levels of the enzyme in humans are linked with diseases. Reduction of the protein level or ... although it is quite different from other peroxisomal disorders and does not share classic Refsum disorder symptoms. The ...
Phytol
Refsum disease (also known as adult Refsum disease) is an autosomal recessive disorder that results in the accumulation of ... Thus, patients with Refsum disease should limit their intake of phytanic acid and free phytol. The amount of free phytol in ... Komen, J.C.; Wanders, R.J.A. (2007). "Peroxisomes, Refsum's disease and the α- and ω-oxidation of phytanic acid". Biochemical ... "Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge ...
Phytanoyl-CoA dioxygenase
PHYH deficiency results in the accumulation of large tissue stores of phytanic acid and is the major cause of Refsum disease. ... Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ (Oct 1997). "Identification of PAHX, a Refsum disease gene ... GeneReviews/NCBI/NIH/UW entry on Refsum Disease Portal: Biology (Articles with short description, Short description matches ... "Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene". Nature Genetics. 17 (2): 190-3. doi:10.1038/ ...
Familial Danish dementia
Differential diagnosis includes Begger syndrome and Refsum disease. Most people with this condition die when they reach their ... "ADan amyloidosis - About the Disease". rarediseases.info.nih.gov. Retrieved 22 July 2023. Paul, Robert H. (2007-11-17). ... ISBN 978-1-59454-046-2. "Dementia, familial Danish , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... ISBN 978-1-4160-5009-4. Pantoni, Leonardo; Gorelick, Philip B. (May 2014). Cerebral Small Vessel Disease. Cambridge University ...
Retinitis pigmentosa
Other conditions include neurosyphilis, toxoplasmosis and Refsum's disease. Acquired conditions resulting in ophthalmoscopic ... "Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns". Human Molecular Genetics. 11 (10 ... The progression of disease occurs in both eyes in a similar but not identical pattern. A variety of indirect symptoms ... At least 35 different genes or loci are known to cause "nonsyndromic RP" (RP that is not the result of another disease or part ...
Phytanic acid
doi:10.1111/j.1365-277x.1993.tb00375.x. Steinberg, D. Phytanic acid storage disease (Refsum's disease). In: Metabolic Basis of ... Individuals with adult Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, have ... Komen, J. C.; Komen, R. J. A. (2007). "Peroxisomes, Refsum's disease and the α- and ω-oxidation of phytanic acid". Biochemical ... foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease". ...
ADI1
Diseases associated with ADI1 include Klebsiella, and refsum disease. ADI1 is capable for supporting hepatitis C virus ...
Zellweger 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 ...
Acute intermittent porphyria
Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias at eMedicine Narang, Neatu; Banerjee, A; Kotwal ... Mejía-Rivera O (8 June 2012). "Las enfermedades de Jean-Jacques Rousseau" [The diseases of Jean-Jacques Rousseau]. Revista ... Seizures often accompany this disease. Most seizure medications exacerbate this condition due to their induction of cytochrome ... Due to the rarity of this disease it is difficult to estimate the prevalence of AIP and the inclusion criteria differs widely ...
Peroxin-7
... is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1. Peroxin GeneReviews/ ... NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1 PEX7+protein,+ ...
Peroxisomal biogenesis factor 2
Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in ...
Refsum
Norwegian painter Refsum disease This page lists people with the surname Refsum. If an internal link intending to refer to a ... Refsum is a surname. Notable people with the surname include: Helge Refsum (1897-1976), Norwegian jurist and politician Maja ... Refsum (1897-1986), Norwegian sculptor and teacher Marie Borge Refsum (born 1927), Norwegian politician Sigvald Bernhard Refsum ... 1907-1991), Norwegian neurologist Thomas Refsum (1878-1957), Norwegian sport shooter Tor Hermod Refsum (1894-1981), ...
Peroxisomal 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. ...
Zellweger 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". ...
Lipid metabolism
Rarer diseases concerning a disorder of the lipid metabolism are sitosterolemia, Wolman's disease, Refsum's disease, and ... Gaucher's disease (types I, II, and III), Niemann-Pick disease, Tay-Sachs disease, and Fabry's disease are all diseases where ... Harris JR (2009). Cholesterol binding and cholesterol transport proteins: structure and function in health and disease. ... and triglycerides which most commonly lead to cardiovascular diseases. A good deal of the time these disorders are hereditary, ...
FKBP4
Chambraud B, Radanyi C, Camonis JH, Rajkowski K, Schumacher M, Baulieu EE (March 1999). "Immunophilins, Refsum disease, and ... This may prove significant for the development of new Alzheimer's drugs and for detecting the disease before the onset of ... and Alzheimer's disease". Journal of Neurochemistry. 133 (1): 1-13. doi:10.1111/jnc.13033. PMC 4361273. PMID 25628064. ...
GLMN
1999). "Immunophilins, Refsum disease, and lupus nephritis: The peroxisomal enzyme phytanoyl-COA α-hydroxylase is a new FKBP- ...
PEX6
... 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 ...
PEX1
... 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- ...
Phosphatidylethanolamine N-methyltransferase
Refsum H, Ueland PM, Nygård O, Vollset SE (1998). "Homocysteine and cardiovascular disease". Annual Review of Medicine. 49: 31- ... High levels of homocysteine are linked to cardiovascular disease and atherosclerosis, particularly coronary artery disease. ... Robinson, Killian H. (2001). "Homocysteine and coronary artery disease". In Carmel, Ralph; Jacobsen, Ralph Carmel (eds.). ... has been linked to non-alcoholic fatty liver disease. This substitution has also been linked to increased frequency of non- ...
Methionine
Refsum H, Ueland PM, Nygård O, Vollset SE (1998). "Homocysteine and cardiovascular disease". Annual Review of Medicine. 49 (1 ... Several studies showed that methionine restriction also inhibits aging-related disease processes in mice and inhibits colon ... The degradation of methionine is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria ( ... 2009). "Codrugs linking L-dopa and sulfur-containing antioxidants: new pharmacological tools against Parkinson's disease". ...
The Myelin Project
... disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus-Merzbacher disease Phenylketonuria Refsum disease ... Transverse myelitis Multiple sclerosis Charcot-Marie-Tooth disease Arachnoiditis Lorenzo's oil "Our Advisors". The Myelin ...
Fall from Grace (House)
... which in conjunction with Refsum disease has been causing his symptoms. House later marries Dominika in his apartment, with the ...
Flynn-Aird syndrome
A number of the symptoms overlapped with several known neurological diseases such as Werner syndrome, Refsum syndrome, and ... The disease is characterized by early-onset dementia, ataxia, muscle wasting, skin atrophy, and eye abnormalities. In addition ... The current findings suggest that the cause of the disease could be narrowed down to one enzymatic defect that is involved in ... The genetic origin of this disease would indicate gene therapy holds the most promise for future development of a cure. But at ...
Ataxia
Niemann-Pick type C disease, Refsum's disease, glucose transporter type 1 deficiency, episodic ataxia type 2, gluten ataxia, ... Wilson's disease is an autosomal-recessive gene disorder whereby an alteration of the ATP7B gene results in an inability to ... Gluten ataxia is an autoimmune disease triggered by the ingestion of gluten. Early diagnosis and treatment with a gluten-free ... Haldeman-Englert C. "Wilson's disease - PubMed Health". PubMed Health. Archived from the original on 27 July 2014. Mitoma H, ...
Foundation Fighting Blindness
Refsum disease, and other rare retinal degenerative diseases. The Foundation funds research in a number of scientific areas ... Stargardt disease and related conditions. These diseases, which affect more than 10 million Americans and millions more ... Stargardt disease, Best disease, choroideremia, retinoschisis, Leber congenital amaurosis, Bardet-Biedl syndrome, cone ... It is the only event of its kind - created solely for individuals and families who are affected by retinal diseases. Nowhere ...
Plasmapheresis
Pemphigus vulgaris Recurrent focal and segmental glomerulosclerosis in the transplanted kidney Refsum disease Rhabdomyolysis ... For example, donations are tested for HIV by ELISA, which shows if they have been exposed to the disease, as well as by nucleic ... It is important to note that plasma exchange therapy in and of itself is useful to temper the disease process, while ... An important use of plasmapheresis is in the therapy of autoimmune disorders, where the rapid removal of disease-causing ...
Refsum disease - Wikipedia
Adult Refsum disease may be divided into the adult Refsum disease 1 and adult Refsum disease 2 subtypes. The former stems from ... Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting 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 ...
Refsum disease: MedlinePlus Genetics
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of ... medlineplus.gov/genetics/condition/refsum-disease/ Refsum disease. ... Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell. (anosmia), and a variety of ... More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by ...
Refsum 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 ... Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh ... Diseases & Conditions Refsum Disease * 2003/viewarticle/do-statins-have-effect-severe-disease-people-noncirrhotic- ...
Refsum 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 ... Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh ... Diseases & Conditions Refsum Disease * 2003/viewarticle/do-statins-have-effect-severe-disease-people-noncirrhotic- ...
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 ... encoded search term (Refsum Disease) and Refsum Disease What to Read Next on Medscape ... Weinstein R. Phytanic acid storage disease (Refsums disease): clinical characteristics, pathophysiology and the role of ...
Refsum disease - Biochemistry Club | Biochemistry
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 ... Refsum disease, like other peroxisomal diseases, is a heterogeneous syndrome. Recently, a mouse model for Refsum disease (Phyh ... 1] Infantile Refsum disease is a peroxisome biogenesis disorder. [2] Refsum first described this disease in 1946. Peripheral ...
Refsum 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 ...
Sigvald Bernhard Refsum
His thesis was the description of the disease that now bears his name. Refsum held the chair of neurology at the University of ... Biography of Sigvald Bernhard Refsum. Sigvald Bernhard Refsum graduated in medicine at the University of Oslo in 1932. He ... Refsum was a visiting professor technical advisor in Thailand 1966-1967, and in 1969 was four months visiting professor at the ... He stayed for a period at the National Hospital for Nervous Diseases in London. From 1947 he spent several years in academic ...
Clinical aspects of hereditary hearing loss | Genetics in Medicine
Hearing loss is an etiologically diverse condition with many disease-related complications and major clinical, social, and ... Refsum disease. Refsum disease is a postlingual severe progressive sensorineural hearing loss associated with retinitis ... Refsum disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. ... Refsum disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. ...
ICD-10 Code for Niemann-Pick disease- E75.24- Codify by AAPC
ICD-10 code E75.24 for Niemann-Pick disease is a medical classification as listed by WHO under the range -Metabolic disorders . ... ICD-10-CM Code for Niemann-Pick disease E75.24 ICD-10 code E75.24 for Niemann-Pick disease is a medical classification as ... listed by WHO under the range - Endocrine, nutritional and metabolic diseases .. Subscribe to Codify by AAPC and get the code ...
Newborn Screening for IEMs
Refsum disease and Zellweger Syndrome. Phytanic acid may also be raised in Refsums disease.. ... Although metabolic diseases are rare individually, cumulatively, the incidence rate may be as high as 1:3,000-3,500 in some ... The aim of this programme is to screen all babies born in Singapore for metabolic and heritable diseases. Although most ... Do note that abnormal results are not sufficient to establish a diagnosis of a particular disease. In order to provide ...
Ataxia with Vitamin E Deficiency - Symptoms, Causes, Treatment | NORD
Refsum disease is a rare lipid metabolic disorder inherited in an autosomal recessive pattern. Symptoms may include weakness or ... Related Rare Diseases: MOG Antibody Disease, Aromatic L-Amino Acid Decarboxylase Deficiency, Miller Fisher Syndrome, ... ... For more information on this disorder, choose "Refsum" as your search term in the Rare Disease Database.) ... Refsum disease is characterized by a marked accumulation of phytanic acid in the plasma and tissues. Prolonged treatment with a ...
Peroxisomal Disorders - Children's Health Issues - MSD Manual Consumer Version
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 ... Doctors diagnose Refsum disease by testing the blood to determine whether the level of phytanic acid is elevated. ... Treatment of Refsum disease involves avoiding eating foods that contain phytanic acid, including dairy products, beef and lamb ...
Table of contents | Journal of Neurology, Neurosurgery & Psychiatry
WikiGenes - Expressed Sequence Tags
Identification of PAHX, a Refsum disease gene. Mihalik, S.J., Morrell, J.C., Kim, D., Sacksteder, K.A., Watkins, P.A., Gould, S ... Chemical compound and disease context of Expressed Sequence Tags. *Among six genes whose induction by hypoxia was newly defined ... Disease relevance of Expressed Sequence Tags. *Microarray analysis demonstrated the majority of the neural crest-selected 852 ... wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary ...
Adult 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. ...
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 ... Reports on the MR imaging findings in phenylketonuria, Refsum disease, glutaric and methylmalonic acidurias emerged that would ... The wide variety of causes of cerebrovascular disease in children such as mitochondrial disease, moyamoya, and aneurysm was ...
![CNS degenerative disorders of childhood [ICNApedia]](data:image/png;base64,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)
CNS degenerative disorders of childhood [ICNApedia]
Refsum disease (peroxisomal disease). AR. 5-10 y. Ataxia. Retinitis pigmentosa. Ataxia. None. Phytanic acid elevated. Treat ... Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue ... Huntington disease. AD. 10% childhood onset. Hypokinetic. Ophthalmoplegia. Rigidity. 50% motor seizures. CT scan: "butterfly" ... Alexander disease. AD. Infancy. Macrocephaly. Ataxia. Demyelination; rosenthal fibers characteristic of biopsy.. Fatal ...
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. ...
International 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 ...
Therapeutic Apheresis | RWJ University Hospital New Brunswick
Anti-glomerular basement membrane antibody disease. Plasma exchange. Phytanic acid storage disease (refsum disease) ... All orders and care relevant to the patients underlying disease if applicable for the admission are given by his/her attending ... Robert Wood Johnson University Hospital Awarded Second Consecutive Disease-Specific Care Re-Certification for Spine Surgery ... a single day stay or longer depending on the nature of the disease being treated. The admitting physician should provide a ...
Low grade inflammation and coronary heart disease: prospective study and updated meta-analyses | The BMJ
We thank H Refsum and P Ueland for the homocysteine assays; M Thomas, Yuk-ki Wong and M Ward for C pneumoniae serology; J ... Acute phase reactants and incident coronary heart disease. The odds ratio for coronary heart disease was 3.46 (95% confidence ... Relation of C-reactive protein and coronary heart disease in the MRFIT nested case-control study. Am J Epidemiol 1996; 144: 537 ... Low grade inflammation and coronary heart disease: prospective study and updated meta-analyses BMJ 2000; 321 :199 doi:10.1136/ ...
Erythropoietin Response to Anaemia in Children with Sickle Cell Disease and Fanconi's Hypoproliferative Anaemia | Citedby...
Harald E. Refsum. European Journal of Haematology (2009) 44 (3): 159. Erythropoietin levels in cobalamin deficiency: Comparison ... Erythropoietin Response to Anaemia in Children with Sickle Cell Disease and Fanconis Hypoproliferative Anaemia. Acta Haematol ... Serum immunoreactive erythropoietin in children with acute leukaemia at various stages of disease - and the effects of ... Standard clinical practice underestimates the role and significance of erythropoietin deficiency in sickle cell disease ...
Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder. | Journal of Medical...
Dr. Husain Bhati - Book Appointment, View Fees, Contact Number, Feedbacks | neurologist,spine surgeon,neurosurgeon in nagpur
Adultrefsumdisease Archives - CUSS
Zellweger 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 ...
Refsum Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessAnesthesiology | McGraw Hill Medical
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 ... Refsum syndrome. Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & Engelhardt T(Eds.),Eds. Bruno ...
PEX1 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 ...