Wolman Disease
Cholesterol Ester Storage Disease
Sterol Esterase
Lipase
Metabolism, Inborn Errors
Lysosomes
Encyclopedias as Topic
Israel
Lipidoses
Acetobacter
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. (1/30)
Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase. Thus far we have elucidated the genetic defects in 15 unrelated CESD patients. Seven were homozygotes for the prevalent hLAL exon 8 splice junction mutation which results in incomplete exon skipping, while eight probands were compound heterozygotes for E8SJM and a rare mutation on the second chromosome. In this report, we describe the molecular basis of CESD in three compound heterozygous subjects of Czech and Irish origin. RFLP and DNA sequence analysis revealed that they were heteroallelic for the common G(934)-->A substitution in exon 8 of the hLAL gene and a mutation which, if inherited on both alleles, would be expected to result in complete loss of enzyme activity and to cause Wolman disease. In patients A. M. and J. J., two nucleotide deletions in exons 7 and 10 were detected, involving a T at position 722, 723, or 724 and a G in a stretch of five guanosines at positions 1064;-1068 of the hLAL cDNA. Both mutations result in premature termination of protein translation at residues 219 and 336, respectively, and in the production of truncated, inactive enzymes. Subject D. H., in contrast, is a compound heterozygote for the Arg(44)-->Stop mutation previously described in a French CESD proband. Combined with data in the literature, our results demonstrate that compound heterozygosity for a mutation causing Wolman disease is common among cholesteryl ester storage disease patients. (+info)Wolman disease successfully treated by bone marrow transplantation. (2/30)
Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the cause of the symptoms and signs. It is inherited in an autosomal recessive manner. All Wolman disease patients have adrenal gland calcification. Previous therapeutic attempts have failed to provide remission. We report successful long-term bone marrow engraftment in a patient with Wolman disease resulting in continued normalization of peripheral leukocyte lysosomal acid lipase enzyme activity. Diarrhea is no longer present. Now, at 4 years of age, this patient is gaining developmental milestones. Cholesterol and triglyceride levels are normal. Liver function is normal. This is the first long-term continued remission reported for Wolman disease. (+info)Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span. (3/30)
Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or enzyme activity. The lal-/- mice appear normal at birth, survive into adulthood, and are fertile. Massive storage of TG and CE is observed in adult liver, adrenal glands, and small intestine. The age-dependent tissue and gross progression in this mouse model are detailed here. Although lal-/- mice can be bred to give homozygous litters, they die at ages of 7 to 8 months. The lal-/- mice develop enlargement of a single mesenteric lymph node that is full of stored lipids. At 6;-8 months of age, the lal-/- mice have completely absent inguinal, interscapular, and retroperitoneal white adipose tissue. In addition, brown adipose tissue is progressively lost. The plasma free fatty acid levels are significantly higher in lal-/- mice than age-matched lal+/+ mice, and plasma insulin levels were more elevated upon glucose challenge. Energy intake was also higher in lal-/- male mice, although age-matched body weights were not significantly altered from age-matched lal+/+ mice. Early in the disease course, hepatocytes are the main storage cell in the liver; by 3;-8 months, the lipid-stored Kupffer cells progressively fill the liver. The involvement of macrophages throughout the body of lal-/- mice provide evidence for a critical nonappreciated role of LAL in cellular cholesterol and fatty acid metabolism, adipocyte differentiation, and fat mobilization. (+info)Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. (4/30)
Wolman disease results from an inherited deficiency of lysosomal acid lipase (LAL; EC 3.1.1.13). This enzyme is essential for the hydrolysis of cholesteryl esters and triacylglycerols derived from endocytosed lipoproteins. Because of a complete absence of LAL activity, Wolman patients accumulate progressive amounts of cholesteryl esters and triacylglycerols in affected tissues. To investigate the nature of the genetic defects causing this disease, mutations in the LAL gene from three subjects of Moslem-Arab and Russian descent living in Israel were determined. Two homozygotes for a novel 1-bp deletion introducing a premature in-frame termination codon at amino acid position 106 (S106X) were identified. A third subject was a homozygote for a G-5R signal peptide substitution and a G60V missense mutation. The functional significance of these mutations was tested by in vitro expression of single and double mutants in Spodoptera frugiperda cells. Single mutants G60V and S106X and double mutant G-5R/G60V displayed a virtual absence of lipase activity in cell extracts and culture medium. Signal peptide mutant G-5R retained lipase activity in cell extracts and showed a drastically reduced enzyme activity in culture supernatant, indicating that the mutation may affect secretion of active enzyme from cells. These results support the notion that Wolman disease is a genetically heterogeneous disorder of lipid metabolism. (+info)Enzyme therapy for lysosomal acid lipase deficiency in the mouse. (5/30)
Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of the triglycerides (TG) and cholesteryl esters (CE) delivered to lysosomes. Its deficiency produces two human phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). A targeted disruption of the LAL locus produced a null (lal( -/-)) mouse model that mimics human WD/CESD. The potential for enzyme therapy was tested using mannose terminated human LAL expressed in Pichia pastoris (phLAL), purified, and administered by tail vein injections to lal( -/-) mice. Mannose receptor (MR)-dependent uptake and lysosomal targeting of phLAL were evidenced ex vivo using competitive assays with MR-positive J774E cells, a murine monocyte/macrophage line, immunofluorescence and western blots. Following (bolus) IV injection, phLAL was detected in Kupffer cells, lung macrophages and intestinal macrophages in lal( -/-) mice. Two-month-old lal( -/-) mice received phLAL (1.5 U/dose) or saline injections once every 3 days for 30 days (10 doses). The treated lal( -/-) mice showed nearly complete resolution of hepatic yellow coloration; hepatic weight decreased by approximately 36% compared to PBS-treated lal( -/-) mice. Histologic analyses of numerous tissues from phLAL-treated mice showed reductions in macrophage lipid storage. TG and cholesterol levels decreased by approximately 50% in liver, 69% in spleen and 50% in small intestine. These studies provide feasibility for LAL enzyme therapy in human WD and CESD. (+info)Wolman's disease--a case report. (6/30)
Wolman's disease is a rare autosomal recessive lysosomal storage disorder. We report a case, which we identified with foamy histiocytes in bone marrow and adrenal calcification in radiological imaging. The diagnosis can be made on minimal investigation when clinically suspected. But cytogenetic study is required to substantiate the diagnosis further. (+info)Isolated fetal ascites caused by Wolman disease. (7/30)
Wolman disease is a rare autosomal-recessive disorder caused by reduced levels of lysosomal acid lipase. It occurs in infancy and is fatal in most cases before the age of 1 year. Affected infants show signs of lipid storage in most tissues, including hepatosplenomegaly, abdominal distension, vomiting, steatorrhea, failure to thrive, and adrenal calcifications. We present a case of isolated fetal ascites diagnosed at 32 weeks of gestation, with negative work-up for immune and non-immune hydrops fetalis and congenital infections and malformations. After delivery, the diagnosis of Wolman disease was established. Although rare, storage diseases such as Wolman disease should be considered in cases of isolated fetal ascites. (+info)Familial spinal xanthomatosis with sitosterolemia. (8/30)
A family with multiple spinal xanthomas and sitosterolemia is described. A 48-year-old woman presented with paraplegia due to multiple intradural extramedullary tumors. The patient also showed marked tendon xanthomas and analysis of sterol composition in both plasma and the xanthoma established the diagnosis of the rare inherited metabolic disease, sitosterolemia and xanthomatosis. Two other siblings in the family presented with marked tendon xanthomas and coronary atherosclerosis, but did not show any neurological signs or symptoms. Magnetic resonance imaging (MRI) study revealed multiple intradural extramedullary tumors in spinal canals of the proband and her sister, but not in the other affected sibling (brother). This is the first report of familial occurrence of multiple extramedullary spinal tumors due to the inherited metabolic abnormality. (+info)Wolman disease is a rare inherited disorder of lipid metabolism, specifically affecting the enzyme acid lipase that is responsible for breaking down cholesteryl esters and triglycerides in lysosomes. This autosomal recessive condition leads to an accumulation of these fatty substances in various tissues and organs, including the liver, spleen, intestines, adrenal glands, and lymph nodes.
The symptoms of Wolman disease typically appear within the first few months of life and can include vomiting, diarrhea, failure to thrive, abdominal distention, and severe malnutrition. Other features may consist of hepatosplenomegaly (enlarged liver and spleen), calcification of adrenal glands, and progressive deterioration of the nervous system. The disease often results in death within the first two years of life if left untreated.
A related condition called acid lipase deficiency or Cholesteryl Ester Storage Disease (CESD) has a later onset and milder symptoms compared to Wolman disease, as it affects only one form of acid lipase enzyme.
Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues and organs, particularly in the liver and spleen. It is caused by mutations in the gene responsible for producing lipoprotein lipase (LPL), an enzyme that helps break down fats called triglycerides in the body.
In CESD, the lack of functional LPL leads to an accumulation of cholesteryl esters in the lysosomes of cells, which can cause damage and inflammation in affected organs. Symptoms of CESD can vary widely, but often include enlargement of the liver and spleen, abdominal pain, jaundice, and fatty deposits under the skin (xanthomas).
CESD is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may involve dietary modifications to reduce the intake of fats, medications to help control lipid levels in the blood, and in some cases, liver transplantation.
A sterol esterase is an enzyme that catalyzes the hydrolysis of sterol esters, which are fatty acid esters of sterols (such as cholesterol) that are commonly found in lipoproteins and cell membranes. Sterol esterases play a crucial role in the metabolism of lipids by breaking down sterol esters into free sterols and free fatty acids, which can then be used in various biochemical processes.
There are several types of sterol esterases that have been identified, including:
1. Cholesteryl esterase (CE): This enzyme is responsible for hydrolyzing cholesteryl esters in the intestine and liver. It plays a critical role in the absorption and metabolism of dietary cholesterol.
2. Hormone-sensitive lipase (HSL): This enzyme is involved in the hydrolysis of sterol esters in adipose tissue, as well as other lipids such as triacylglycerols. It is regulated by hormones such as insulin and catecholamines.
3. Carboxylesterase (CES): This enzyme is a broad-specificity esterase that can hydrolyze various types of esters, including sterol esters. It is found in many tissues throughout the body.
Sterol esterases are important targets for drug development, as inhibiting these enzymes can have therapeutic effects in a variety of diseases, such as obesity, diabetes, and cardiovascular disease.
Lipase is an enzyme that is produced by the pancreas and found in the digestive system of most organisms. Its primary function is to catalyze the hydrolysis of fats (triglycerides) into smaller molecules, such as fatty acids and glycerol, which can then be absorbed by the intestines and utilized for energy or stored for later use.
In medical terms, lipase levels in the blood are often measured to diagnose or monitor conditions that affect the pancreas, such as pancreatitis (inflammation of the pancreas), pancreatic cancer, or cystic fibrosis. Elevated lipase levels may indicate damage to the pancreas and its ability to produce digestive enzymes.
Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.
Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.
Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.
Lysosomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells. They are responsible for breaking down and recycling various materials, such as waste products, foreign substances, and damaged cellular components, through a process called autophagy or phagocytosis. Lysosomes contain hydrolytic enzymes that can break down biomolecules like proteins, nucleic acids, lipids, and carbohydrates into their basic building blocks, which can then be reused by the cell. They play a crucial role in maintaining cellular homeostasis and are often referred to as the "garbage disposal system" of the cell.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
I'm sorry for any confusion, but "Israel" is not a medical term. It is a country located in the Middle East. If you have any medical questions or terms you would like defined, I would be happy to help!
Lipidoses are a group of genetic disorders characterized by abnormal accumulation of lipids (fats or fat-like substances) in various tissues and cells of the body due to defects in lipid metabolism. These disorders include conditions such as Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Wolman disease, among others. The accumulation of lipids can lead to progressive damage in multiple organs, resulting in a range of symptoms and health complications. Early diagnosis and management are essential for improving the quality of life and prognosis of affected individuals.
'Acetobacter' is a genus of gram-negative, aerobic, rod-shaped bacteria that are commonly found in various environments such as soil, water, and plant surfaces. They are known for their ability to oxidize alcohols to aldehydes and then to carboxylic acids, particularly the oxidation of ethanol to acetic acid. This property makes them important in the production of vinegar and other fermented foods. Some species of Acetobacter can also cause food spoilage and may be associated with certain human infections, although they are not considered primary human pathogens.
I apologize for any confusion, but "Military Personnel" is not a medical term. It refers to individuals who serve in the military forces of a country, including the Army, Navy, Air Force, Marine Corps, and Coast Guard. Medical terms typically refer to specific conditions, diagnoses, treatments, or anatomical features related to healthcare. If you have any questions about medical terminology or concepts, I would be happy to help clarify!
Moshe Wolman
Lysosomal acid lipase deficiency
Acid lipase disease
List of OMIM disorder codes
Lipase a, lysosomal acid type
Lysosomal lipase
Naser Kamalian
Wolman
Lipid metabolism
Lipase
List of people with motor neuron disease
Wendy Chung
Abel Wolman
List of diseases (W)
Inborn error of lipid metabolism
November 1914
List of conditions treated with hematopoietic stem cell transplantation
List of MeSH codes (C17)
Lysosomal storage disease
List of eponymous diseases
Baron Wolman
Deaths in August 2013
List of MeSH codes (C18)
List of MeSH codes (C16)
Lipid storage disorder
Tel Aviv University
Chromosome 10
Hazard
Neil B. Shulman
René Spitz
Wolman Disease - Supra-Regional Assay Service
Wolman disease - Bioarray
Moshe Wolman - Wikipedia
Wolman disease Forum: the discussions on Carenity
Sebelipase Alfa Dosage Guide + Max Dose, Adjustments - Drugs.com
Cholesteryl Ester Storage Disease and Wolman Disease - Pediatrics - MSD Manual Professional Edition
Lysosomal acid lipase deficiency: MedlinePlus Genetics
4CPS-031 Efficacy and safety of high-dose twice-weekly sebelipase alfa in severe-onset Wolman disease: a case report | European...
Causes of Addison's disease: Adrenal gland disruption and others
Metabolic disease - New World Encyclopedia
Lipid Storage Disorders: Background, Pathophysiology, Mode of Inheritance
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
A new era for Gilead
People Share Their Best Predictions For 2022 - George Takei
LIPA | Cancer Genetics Web
Table of contents | Journal of Medical Genetics
Human Metabolome Database: Showing metabocard for Acetoacetyl-CoA (HMDB0001484)
Orphanet: Lysosomal acid lipase deficiency
Adrenal: Adrenal Adenoma Imaging Pearls - Educational Tools | CT Scanning | CT Imaging | CT Scan Protocols - CTisus
Lipid Storage Diseases | National Institute of Neurological Disorders and Stroke
JournalTOCs
New Focus On Genetic Screening For Persians - Jewish Telegraphic Agency
The price of a miracle: Should we limit spending on lifesaving drugs?
2014 Pipeline Report: The Sprint to Value
Lysosomal Acid Lipase Deficiency - PAN Foundation
4-Methylumbelliferyl palmitate | GoldBio
Disease Landscape and Forecast - Market Assessment - Research Reports - Clarivate
Disease Landscape and Forecast - Market Assessment - Research Reports - Clarivate
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Lysosomal Storage Disease: Overview, Classification of Lysosomal Storage Diseases, Glycogen Storage Disease Type II
Cholesteryl Ester S9
- Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease]. (nih.gov)
- The early-onset form was known as Wolman disease, and the later-onset form was known as cholesteryl ester storage disease. (medlineplus.gov)
- a milder form of LAL deficiency is known as cholesteryl ester storage disease (CESD). (myguitarsolo.com)
- Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. (origene.com)
- Saito S, Ohno K, Suzuki T, Sakuraba H. Structural bases of Wolman disease and cholesteryl ester storage disease. (nih.gov)
- Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. (nih.gov)
- Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. (inra.fr)
- Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant hypercholesterolemia, may actually have cholesteryl ester storage disease. (inra.fr)
- Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13). (inra.fr)
Deficiency7
- Previous studies had shown that LAL deficiency in kids with Wolman disease overactivates another signaling pathway, which could be suppressed by targeting a receptor known as FXR. (nih.gov)
- Understanding of the chemistry involved in histological techniques enabled Moshe Wolman in the 1950s to determine that the storage disease, that was later named after him is known as lysosomal acid lipase deficiency or Wolman disease, is caused by accumulation in cells of a mixture of cholesterol and triglycerides and differed substantially from Niemann-Pick disease. (wikipedia.org)
- Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)
- Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins. (nih.gov)
- The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase ( STEROL ESTERASE ). (nih.gov)
- Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant's ability to metabolise cholesterol. (biomedcentral.com)
- Their deficiency generates an imbalance in lipid catabolism and accumulation of lysosomal cholesteryl esters and triglycerides, especially in hepatocytes and macrophages, leading to severe diseases. (phospholipid-research-center.com)
Pompe6
- Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
- The successful treatment of Pompe disease in utero for the first time may be the start of a new chapter for fetal therapy, researchers said. (medscape.com)
- A report published online November 9 in the New England Journal of Medicine describes in utero enzyme-replacement therapy (ERT) for infantile-onset Pompe disease. (medscape.com)
- Pompe disease is caused by mutations in a gene that makes acid alpha-glucosidase. (medscape.com)
- UCSF has received US Food and Drug Administration approval to treat Pompe disease and several other lysosomal storage disorders in utero as part of a phase 1 clinical trial with 10 patients. (medscape.com)
- Patients with Pompe disease might typically be diagnosed clinically at age 3-6 months, study coauthor Paul Harmatz, MD, with UCSF, said. (medscape.com)
Wolman's Disease6
- Wolman's disease. (nih.gov)
- Wolman's disease diagnosed by intestinal biopsy. (nih.gov)
- Wolman's disease--a case report. (nih.gov)
- Wolman's disease: a review of treatment with bone marrow transplantation and considerations for the future. (nih.gov)
- citation needed] In 1954, he described Wolman's disease. (wikipedia.org)
- 7. Accumulation of glyceryl ether lipids in Wolman's disease. (nih.gov)
Acid4
- Wolman disease is caused by genetic changes in the LIPA gene which provides instructions to make the lysosomal acid lipase. (nih.gov)
- We report successful long-term bone marrow engraftment in a patient with Wolman disease resulting in continued normalization of peripheral leukocyte lysosomal acid lipase enzyme activity. (nih.gov)
- Disorders of fatty acid metabolism, which lead to fatty liver disease, are a pathological condition with a risk of serious complications. (orla.fm)
- With our integration strategy, erythroblasts expressed and secreted functional enzymes at high levels including lysosomal acid lipase (involved in Wolman disease), Factor IX (hemophilia B), α-l-iduronidase (MPSI) and α-galactosidase (Fabry disease). (nature.com)
Gene5
- RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
- No human diseases associated to this gene by orthology or annotation . (mousephenotype.org)
- 140 disease terms (MeSH) has been reported with LDLR gene. (cdc.gov)
- A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
- Current research aims at a better understanding of disease pathogenesis and evaluation of more targeted approaches to therapy, including anti-cytokine antibodies and gene therapy. (biomedcentral.com)
Cholesterol Ester S1
- It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE . (nih.gov)
Infants1
- These findings suggest that FGF19 or perhaps another compound that acts similarly might hold promise for infants with Wolman disease, who often die at a very early age. (nih.gov)
Mutations3
- Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
- Molecular genetic analysis revealed two mutations one of which has previously been seen only in Wolman disease. (inra.fr)
- RNA-guided nucleases such as Crispr/Cas9 and base editors can potentially fix most disease-causing mutations, intervening directly on the patient's genome 1,2 . (nature.com)
Patients9
- All Wolman disease patients have adrenal gland calcification. (nih.gov)
- Ultimately, Takebe suggests it might prove useful to grow liver organoids from individual patients with fatty liver diseases, in order to identify the underlying biological causes and test the response of those patient-specific organoids to available treatments. (nih.gov)
- In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
- Patients with these diseases "are ideal candidates for prenatal therapy because organ damage starts in utero," the researchers said. (medscape.com)
- As such, our work may add new understandings of HLH and/or KD secondary to severe infections in general and excessive release of cytokines in particular among patients with kidney diseases. (bvsalud.org)
- In patients with predisposing genetic disease, hematopoietic stem cell transplantation is performed increasingly with reduced intensity conditioning regimes. (biomedcentral.com)
- HLH frequently develops in patients with underlying genetic disease (primary or familial HLH), but can also occur secondary to infection, malignancy, metabolic or autoimmune diseases in patients with no known genetic predisposition ('secondary' or acquired HLH). (biomedcentral.com)
- Onset of HLH in patients with these diseases tends to be later than in patients with FHL. (biomedcentral.com)
- Acute hepatic failure is a clinical syndrome that occurs within weeks to a few months of the onset of liver disease in patients in whom liver function is presumed to have been normal before the illness. (musculoskeletalkey.com)
Rare diseases3
- Questions about rare diseases? (nih.gov)
- Many rare diseases have limited information. (nih.gov)
- Browse the GARD list of rare diseases and related terms to find topics of interest to you. (blogspot.com)
Xanthomatosis1
- Wolman F, Sterck V, Gatt S, and Frenkel M (1961) Primary familial xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant. (myguitarsolo.com)
Congenital1
- Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). (nih.gov)
Severe2
- Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. (nih.gov)
- Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages secreting high amounts of inflammatory cytokines. (biomedcentral.com)
Accumulation6
- While these "organoids" closely mimic the structures of the liver and other vital organs, it's been tough to get them to represent inflammation, fibrosis, fat accumulation, and many other complex features of disease. (nih.gov)
- So, in the new study, the team applied an FXR-targeted compound called FGF19, and it prevented fat accumulation in the liver organoids derived from people with Wolman disease. (nih.gov)
- Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
- Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
- Fatty liver disease is a disease that is associated with the accumulation of fat in liver cells. (orla.fm)
- Alcoholic fatty liver disease and non-alcoholic fatty liver disease are diseases that have different causes - excessive accumulation of triglycerides in the blood, which the organ cannot cope with. (orla.fm)
19891
- Wolman, 1989). (wikipedia.org)
Lipid storage diseases1
- Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)
Fatty liver18
- Can Organoids Yield Answers to Fatty Liver Disease? (nih.gov)
- Fatty liver diseases are an increasingly serious health problem. (nih.gov)
- Missing were other key cell types involved in the inflammatory response to fatty liver diseases. (nih.gov)
- When exposed to free fatty acids, the organoids gradually accumulated fat in a dose-dependent manner and grew inflamed, which is similar to what happens to people with fatty liver diseases. (nih.gov)
- Next, as highlighted in the confocal microscope image above, Takebe's team produced organoids from iPSCs derived from children with a deadly inherited form of fatty liver disease known as Wolman disease. (nih.gov)
- It is most often associated with alcohol abuse - alcoholic fatty liver disease is one of the serious consequences of alcoholism. (orla.fm)
- However, fatty liver disease is caused not only by excessive consumption of alcoholic beverages. (orla.fm)
- What are the common causes and symptoms of fatty liver disease? (orla.fm)
- What is fatty liver disease? (orla.fm)
- How to prevent fatty liver disease? (orla.fm)
- Frequently diagnosed liver diseases include alcoholic liver disease (alcoholic fatty liver disease, alcoholic hepatitis, alcoholic cirrhosis) and non-alcoholic fatty liver disease (non-alcoholic fatty liver disease, non-alcoholic steatohepatitis). (orla.fm)
- The risk of developing fatty liver disease occurs in the course of many diseases, but appropriate treatment and elimination of harmful habits can effectively reduce it. (orla.fm)
- Fatty liver disease involves the deposition of fat in liver cells and is related to metabolic disorders. (orla.fm)
- As a result of progressive fatty liver disease, liver fibrosis and cirrhosis may occur. (orla.fm)
- Chronic inflammation of the liver is one of the complications of fatty liver disease. (orla.fm)
- It is worth knowing that detecting fatty liver disease and other liver diseases at an early stage and implementing appropriate treatment helps avoid irreversible liver damage, which may lead to premature death due to liver cirrhosis. (orla.fm)
- Alcoholic fatty liver disease is caused by excessive alcohol consumption. (orla.fm)
- Controlled excessive alcohol consumption, which is not related to alcohol addiction, can also lead to alcoholic fatty liver disease. (orla.fm)
Defects2
- More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
- Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
Autoimmune diseases1
- autoimmune diseases. (orla.fm)
Hematopoietic stem cell trans2
- Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
- The availability of both ERT and hematopoietic stem cell transplantation has prompted ongoing consideration of newborn screening efforts to diagnose lysosomal storage diseases. (medscape.com)
Chronic4
- Gastroesophageal reflux disease (GERD) is arguably the most common chronic gastrointestinal disorder, characterized by symptoms of heartburn and regurgitation. (clarivate.com)
- Features of anemia of chronic disease are a low serum iron, increased red cell protoporphyrin, hypoproliferative marrow, transferrin saturation of 15 - 20%, & normal or increased serum ferritin. (dentaldevotee.com)
- Aggressive NK cell leukemia (ANKL) and systemic EBV-positive T-cell lymphoma of childhood (SEBVTCL) with CD4-positive immunophenotype are both rare entities, are most described in Asians and East Asians, are associated with prior systemic chronic active EBV disease (CAEBV), and presentation with Hemophagocytic Lymphohistiocytosis (HLH). (bvsalud.org)
- Children who present with hepatic failure may have end-stage chronic liver disease or previously undiagnosed liver disease. (musculoskeletalkey.com)
OMIM1
- The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. (mousephenotype.org)
Abdominal1
- Early diagnosis of liver diseases is possible thanks to systematic screening tests, which include, among others: liver tests and abdominal ultrasound examination. (orla.fm)
Disorders3
- Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
- We believe that this platform could be useful for a number of therapeutic applications, in particular for monogenic disorders that require protein replacement therapy, but also to engineer red blood cells with novel functions to target cancer or to induce self-antigen tolerance in auto-immune diseases. (nature.com)
- Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders . (chemeurope.com)
Gaucher Disease2
Secondary1
- BACKGROUND: We herein described the coexistence of hemophagocytic lymphohistiocytosis (HLH) and histiocytic necrotizing lymphadenitis, alternatively known as the Kikuchi disease (KD), secondary to hemodialysis catheter-related bloodstream infection (BSI) caused by Corynebacterium striatum. (bvsalud.org)
Genetic Diseases2
- GeneReviews provides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling. (nih.gov)
- and ii) design a technology platform that could be applied to other genetic diseases. (phospholipid-research-center.com)
Phenotypic1
- The table below shows human diseases predicted to be associated to Rcan1 by phenotypic similarity . (mousephenotype.org)
Accumulate2
- In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. (medlineplus.gov)
- they accumulate in the liver, resulting in liver disease. (nih.gov)
Disorder1
- NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. (rarediseases.org)
GARD1
- Orphanet provides GARD with information for this disease. (nih.gov)
Endocrine1
- Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. (nih.gov)
Viral1
- Polio is a highly infectious viral disease that largely affects children aged under five years. (ris.world)
Pathogenesis1
- Impaired secretion of perforin is a key feature in several genetic forms of the disease, but not required for disease pathogenesis. (biomedcentral.com)
Difficulty2
- He was one of the first to recognize that polarized light microscopy is a powerful tool, which allows the detection of structures that otherwise be obtained only with great difficulty (Wolman, 1970). (wikipedia.org)
- Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
Type1
- Type 1 (nonneuronopathic type) is the most common form of the disease in the U.S. and Europe. (nih.gov)
Onset1
- Babies with infantile-onset disease typically have enlarged hearts and die by age 2 years. (medscape.com)
Phenotypes1
- Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
Liver diseases4
- The findings also demonstrate a promising approach to accelerating the search for new treatments for a variety of liver diseases. (nih.gov)
- Liver diseases are a large group of diseases that have various causes, but in most cases, they develop asymptomatically. (orla.fm)
- Lifestyle has a significant impact on the development of liver diseases. (orla.fm)
- The group at risk of developing liver diseases, in addition to people abusing alcohol and people chronically using over-the-counter and prescription drugs, includes people who are overweight and obese, people with diabetes and insulin resistance, celiac disease, and inflammatory bowel diseases (e.g. ulcerative colitis). (orla.fm)
Enzyme2
- Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
- This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)