• On 17 December 2010, orphan designation (EU/3/10/827) was granted by the European Commission to HungaroTrial Ltd, Hungary, for recombinant human lysosomal acid lipase for the treatment of lysosomal acid lipase deficiency. (europa.eu)
  • recombinant human lysosomal acid lipase, sebelipase alfa (Kanuma) has been authorised in the EU since 28 August 2015 for long-term enzyme replacement therapy (ERT) in patients of all ages with lysosomal acid lipase (LAL) deficiency. (europa.eu)
  • Recombinant human lysosomal acid lipase is an 'enzyme replacement therapy' that is expected to work by replacing the missing enzyme in lysosomal acid lipase deficiency, helping to break down fats and stopping them building up in the body's cells. (europa.eu)
  • Recombinant human lysosomal acid lipase is produced by a method known as 'recombinant DNA technology': it is extracted from the eggs of hens that have been given genes that make them able to produce an exact copy of the human enzyme in their eggs. (europa.eu)
  • The effects of recombinant human lysosomal acid lipase have been evaluated in experimental models. (europa.eu)
  • At the time of submission, recombinant human lysosomal acid lipase was not authorised anywhere in the EU for the treatment of lysosomal acid lipase deficiency. (europa.eu)
  • In 2015 the results of a phase 3 trial with sebelipase , a recombinant human lysosomal acid lipase, resulted in a reduction in multiple disease-related hepatic and lipid abnormalities in children and adults with lysosomal acid lipase deficiency. (bredagenetics.com)
  • Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. (icbinhibitor.com)
  • Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters. (uni-bielefeld.de)
  • The early-onset form was known as Wolman disease, and the later-onset form was known as cholesteryl ester storage disease. (medlineplus.gov)
  • The early-onset, rapidly progressive form, Wolman disease, presents in the neonatal or infantile period with non-specific symptoms of massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting, resulting in malabsorption, and cachexia. (orpha.net)
  • Deficiency of lysosomal acid lipase causes two distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). (bredagenetics.com)
  • Background and importance Lysosomal acid lipase (LAL) deficiency is a rare metabolic disease (0.2:10 000) characterised by lysosomal accumulation of cholesterol esters and triglycerides, with a severe and rapidly progressive form known as Wolman disease (WD), usually fatal in the first 6-12 months of life. (bmj.com)
  • Dietary restriction has shown promise for disorders such as lysosomal acid lipase deficiency (Wolman disease), as has incorporation of lipid-lowering drugs in the regimen along with sebelipase alpha, a recombinant enzyme replacement therapy. (medscape.com)
  • 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)
  • 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)
  • LAL hydrolyzes cholesteryl esters and triglycerides, and thus LAL deficiency results in gradual accumulation of these lipids in the liver, spleen, and other organs. (orpha.net)
  • Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein. (inra.fr)
  • The two forms of lysosomal acid lipase deficiency were once thought to be separate disorders. (medlineplus.gov)
  • Although these two disorders have the same genetic cause and are now considered to be forms of a single condition, these names are still sometimes used to distinguish between the forms of lysosomal acid lipase deficiency. (medlineplus.gov)
  • Differential diagnosis includes familial hypercholesterolemia, non-alcoholic fatty liver disease, cryptogenic cirrhosis, and combined hyperlipidemia, as well as other lysosomal storage disorders. (orpha.net)
  • 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)
  • 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)
  • 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)
  • 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)
  • One of the most common lysosomal storage disorders is Gaucher disease, discussed below. (medscape.com)
  • Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
  • Drug desensitization procedures may be a safe and effective way to avoid the discontinuation of enzyme replacement therapy in patients with lysosomal storage disorders such as lysosomal acid lipase deficiency (LAL-D) who have previously experienced hypersensitivity reactions, according to an article published in Pediatric Allergy and Immunology . (rarediseaseadvisor.com)
  • Lysosomal storage disorders include a heterogeneous group of approximately 70 different rare diseases marked by diverse genetic impairments causing the loss of specific enzymes and subsequent metabolite accumulation in the lysosomes. (rarediseaseadvisor.com)
  • Hypersensitivity reaction during enzyme replacement therapy in lysosomal storage disorders. (rarediseaseadvisor.com)
  • Metachromatic leukodystrophy, or MLD, is a rare disease that belongs to two large groups of genetic disorders called leukodystrophies and lysosomal diseases. (allstripes.com)
  • MLD is also one of a large group of genetic disorders called lysosomal diseases, which are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. (allstripes.com)
  • Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. (biomedcentral.com)
  • Lysosomal storage disorders are caused by a deficiency or absence of required enzymes. (conduent.com)
  • The later onset form, cholesteryl ester storage disease (CESD), presents between childhood and adulthood with a more variable clinical course that ranges from insidious to symptomatic. (orpha.net)
  • 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)
  • Decreased lysosomal acid lipase activity results in the accumulation of cholesteryl esters, triglycerides, and other lipids within lysosomes, causing fat buildup in multiple tissues. (medlineplus.gov)
  • BACKGROUND AND AIMS: Lysosomal acid lipase deficiency (LAL-D) is a rare, autosomal recessive disease involving lysosomal accumulation of cholesteryl esters and triglycerides. (bvsalud.org)
  • The lysosomal acid lipase enzyme breaks down lipids such as cholesteryl esters and triglycerides. (medlineplus.gov)
  • Progressive lysosomal lipid accumulation leads to the characteristic liver pathology and dysfunction (including hepatomegaly, liver fibrosis and/or cirrhosis, and elevated serum transaminases), dyslipidemia (elevated serum LDL-cholesterol and triglycerides, with normal to low HDL-cholesterol concentrations), premature atherosclerosis, splenomegaly and, eventually, end-stage liver failure. (orpha.net)
  • Hydrolysis of cholesteryl esters and triglycerides in the lysosome is performed by lysosomal acid lipase (LAL). (inra.fr)
  • Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
  • More than 50 lysosomal storage diseases have been described, some of which are discussed in this article. (medscape.com)
  • 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)
  • 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)
  • 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)
  • 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, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
  • We are the only registered charity providing professional support to individuals and families affected by MPS, Fabry and related lysosomal diseases in the UK. (mpssociety.org.uk)
  • 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)
  • Niemann-P ick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases . (radiopaedia.org)
  • Most of these are lysosomal storage diseases. (biomedcentral.com)
  • Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. (wikipedia.org)
  • Lysosomal acid lipase deficiency is a genetic disease that is autosomal recessive. (wikipedia.org)
  • Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. (radiopaedia.org)
  • Some people with this later-onset form of lysosomal acid lipase deficiency develop an accumulation of fatty deposits on the artery walls ( atherosclerosis ). (medlineplus.gov)
  • The lipids produced through these processes, cholesterol and fatty acids, are used by the body or transported to the liver for removal. (medlineplus.gov)
  • Niemann-Pick types A and B result from accumulation of the fatty substance called sphingomyelin, due to deficiency of an enzyme called sphingomyelinase. (nih.gov)
  • Cholesterol is a hydrophobic compound, with a single hydroxyl group located at carbon 3 of the A ring, to which a fatty acid can be attached, producing an even more hydrophobic cholesteryl ester. (pharmacy180.com)
  • Apo C-II activates endothelial lipoprotein lipase (LPL), which degrades the TAG in chylomicrons to fatty acids and glycerol. (pharmacy180.com)
  • The fatty acids that are released are stored (in the adipose) or used for energy (by the muscle). (pharmacy180.com)
  • After the degradation of damaged proteins and lipids, amino acids and fatty acids are released into the cytoplasm and recycled for new biosynthesis of cellular components or energy production [ 4 ]. (hindawi.com)
  • In the severe, early-onset form of lysosomal acid lipase deficiency, lipids accumulate throughout the body, particularly in the liver, within the first weeks of life. (medlineplus.gov)
  • The drug is designed to treat, lysosomal acid lipase deficiency that causes fat to accumulate in the liver, spleen and vasculature. (isaaa.org)
  • In the absence of this enzyme, called lysosomal acid lipase, fats accumulate in the body's cells and tissues, causing symptoms such as growth failure, enlarged liver, diarrhoea and malabsorption (when nutrients from food are not easily absorbed during digestion). (europa.eu)
  • Babies born with this condition lack an enzyme called lysosomal acid lipase (LAL) that breaks down fats, causing them to accumulate dangerously in the liver. (nih.gov)
  • Subsequently Sebelipase alfa (Kanuma™) , administered by intravenous infusion once weekly or once every other week, received its first global approval, in the EU, in August 2015 for long-term enzyme replacement therapy in patients of all ages with lysosomal acid lipase deficiency deficiency. (bredagenetics.com)
  • OBJECTIVES: Sebelipase alfa is approved for treatment of lysosomal acid lipase deficiency (LAL-D). This single-arm, open-label study (NCT02112994) evaluated sebelipase alfa efficacy and safety in patients with LAL-D. METHODS: Patients >8â months of age diagnosed with LAL-D received sebelipase alfa 1.0â mg/kg by intravenous infusion every other week (qow) for up to 144â weeks. (bvsalud.org)
  • Lysosomal acid lipase deficiency can now be treated with sebelipase alfa , a recombinant form of the deficient enzyme. (msdmanuals.com)
  • The recombinant AAV (rAAV) genome composed of a foreign expression cassette and AAV inverted terminal repeat (ITR) sequences exists in eukaryotic cells in an episomal form that is responsible for persistent transgene expression (Schnepp et al. (justia.com)
  • Mutations in the LIPA gene cause lysosomal acid lipase deficiency. (medlineplus.gov)
  • The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. (medlineplus.gov)
  • Mutations in the LIPA gene lead to a shortage (deficiency) of functional lysosomal acid lipase. (medlineplus.gov)
  • The condition is caused by a mutation of the LIPA gene, which encodes the lysosomal lipase protein (also called lysosomal acid lipase or LAL), that results in a loss of the protein's normal function. (wikipedia.org)
  • Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. (wikipedia.org)
  • Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. (wikipedia.org)
  • The disease is due to mutations in the gene LIPA (10q23.2-q23.3) encoding the enzyme lysosomal acid lipase (LAL). (orpha.net)
  • Lysosomal acid lipase deficiency is caused by homozygous or compound heterozygous mutation in the LIPA gene. (bredagenetics.com)
  • The International Lysosomal Acid Lipase Deficiency Registry (NCT01633489), established in 2013 to understand LAL-D natural history and long-term outcomes, is accessible to centres caring for patients diagnosed by deficient LAL activity and/or biallelic pathogenic LIPA variants. (bvsalud.org)
  • Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). (medlineplus.gov)
  • Individuals with this form of lysosomal acid lipase deficiency may have increased liver enzymes and high cholesterol levels, which can be detected with blood tests. (medlineplus.gov)
  • This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). (cancerindex.org)
  • The rate-limiting step in bile acid synthesis is catalyzed by cholesterol-7-gα-hydroxylase, which is inhibited by bile acids. (pharmacy180.com)
  • Esterified cholesterol and triacylglycerol contained in lipoproteins cleared from the circulation via receptormediated or bulk-phase endocytosis are hydrolyzed by lysosomal acid lipase within the late endosomal/lysosomal (E/L) compartment. (elsevierpure.com)
  • NEW & NOTEWORTHY In Niemann-Pick type C1 (NPC1) disease, the entrapment of unesterified cholesterol (UC) in the endosomal/ lysosomal compartment of all cells causes multiorgan disease, including neurodegeneration, pulmonary dysfunction, and liver failure. (elsevierpure.com)
  • Dallas, TX 75231 Farnesoid X receptor activation increases reverse cholesterol transport by modulating bile acid composition and cholesterol absorption in mice. (skanestugan.se)
  • Because LAL deficiency is inherited, each sibling of an affected individual has a 25% chance of having pathological mutations in LAL genes from both their mother and their father, a 50% chance of having a pathological mutation in only one gene, and a 25% chance of having no pathological mutations. (wikipedia.org)
  • Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
  • Du H, Heur M, Witte DP, Ameis D, Grabowski GA. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. (icbinhibitor.com)
  • LAL deficiency in ECs leads to elevated transendothelial migration of Ly6G+ cells(A) Transwell assay was performed to decide Ly6G+ cells transmigration Aurora B Inhibitor Gene ID across the endothelial monolayer formed by lal+/+ or lal-/- ECs. (icbinhibitor.com)
  • Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder that results from one of several single gene defects in the biosynthetic pathway of molybdenum cofactor. (conduent.com)
  • 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)
  • Once the autophagosome forms, it fuses with the lysosome and creates a structure called the autolysosome. (hindawi.com)
  • Lysosomal acid lipase deficiency is an inherited disease caused by the lack of one of the enzymes needed to break down fats within cells. (europa.eu)
  • Sphingolipidoses Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. (msdmanuals.com)
  • The instructions for building nearly all the enzymes involved in metabolism are stored as deoxyribonucleic acid (DNA) in the nucleus of the cell. (newworldencyclopedia.org)
  • Lysosomal enzymes then degrade the cargo contained within the autolysosome. (hindawi.com)
  • Deficiency of galactocerebrosidase results in the accumulation of galactosylceramide within the lysosomes of Schwann cells and oligodendrocytes which eventually results in apoptosis with secondary abnormal activation of microglia and macrophages with subsequent demyelination and gliosis 2,9,10 . (radiopaedia.org)
  • Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)
  • A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis. (orpha.net)
  • In humans, acetoacetyl-CoA is involved in the metabolic disorder called the short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) pathway. (hmdb.ca)
  • It is an inborn error of metabolism that causes a lysosomal storage disease. (wikipedia.org)
  • A form of the disease that strikes infants is quickly fatal. (isaaa.org)
  • A second form that affects older patients causes liver enlargement, fibrosis and cirrhosis, as well as cardiovascular disease. (isaaa.org)
  • Lysosomal acid lipase deficiency is a severe and life-threatening disease which, in its most severe form, is usually fatal in the first year of life. (europa.eu)
  • 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)
  • Lysosomal acid lipase deficiency is predominantly a pediatric disease , although milder forms of the disease with possibility of a normal life-span are also possible. (bredagenetics.com)
  • Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for FH, sitosterolemia, and other monogenic forms of inherited hypercholesterolemia. (marshfieldlabs.org)
  • Type 1 (nonneuronopathic type) is the most common form of the disease in the U.S. and Europe. (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)
  • More than 100 million people in the U.S. have some form of liver disease. (liverfoundation.org)
  • The existence of a new class of potent and selective SOAT2 inhibitors provides an opportunity for exploring if suppression of this enzyme could potentially become an adjunctive therapy for liver disease in NPC1 deficiency. (elsevierpure.com)
  • The most severe and rarest form begins in infancy. (medlineplus.gov)
  • The less severe form can begin from childhood to late adulthood. (medlineplus.gov)
  • Infants with this form of lysosomal acid lipase deficiency develop multi-organ failure and severe malnutrition and generally do not survive past 1 year. (medlineplus.gov)
  • The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. (nih.gov)
  • Type A, the most severe form, begins in early infancy. (nih.gov)
  • Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. (bmj.com)
  • Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II. (uni-bielefeld.de)
  • an inherited disorder of metabolism, caused by lysosomal acid lipase deficiency resulting in hyperlipidemia and hepatomegaly. (msdmanuals.com)
  • As published in Cell Metabolism , the recipe involves a three-step process to coax human iPSCs into forming multi-cellular liver organoids in as little as three weeks. (nih.gov)
  • More than 95% of the bile salts are efficiently reabsorbed in the intestinal ileum by a sodium-bile salt cotransporter, returned to the blood, and carried by albumin back to the liver where they are taken up by the hepatic form of the cotransporter and reused (enterohepatic circulation, which bile acid sequestrants reduce). (pharmacy180.com)
  • Infants, children and adults that have LAL deficiency experience a range of serious health problems. (wikipedia.org)
  • LAL deficiency typically affects infants in the first year of life. (wikipedia.org)
  • Patients with a deficiency of LPL or apo C-II show a dramatic accumulation of chylomicrons in the plasma (type I hyperlipoproteinemia, or familial LPL deficiency) even if fasted. (pharmacy180.com)
  • At the time of submission of the application for orphan designation , no clinical trials with the medicine in patients with lysosomal acid lipase deficiency had been started. (europa.eu)
  • Acid ceramidase (ACDase) -mangel er et spektrum af forstyrrelser, der inkluderer en sjælden lysosomal opbevaringsforstyrrelse kaldet Farber sygdom (FD) og en sjælden epileptisk lidelse kaldet spinal muskelatrofi med progressiv myoklonisk epilepsi (SMA-PME). (biomedicalhouse.com)
  • Farber offentliggjorde senere en sagsrekke med tre patienter i 1952, som en transaktion for det 62. (biomedicalhouse.com)
  • Selvom Farber påviste en stigning i lipider i sine tidlige biokemiske undersøgelser, blev det vigtigste lipid, der ophobes ved Farber sygdom (FD), dvs. (biomedicalhouse.com)
  • Dystrophin associates with a number of proteins to form a large oligomeric complex named the dystrophin-glycoprotein complex (DGC), which bridges across the sarcolemma and connects the extracellular matrix and the actin cytoskeleton (Allamand and Campbell, (2000) Human Molecular Genetics 9:2459-2467). (justia.com)
  • Autophagy is a cellular catabolic process that eliminates damaged cell organelles, unfolded proteins, and various intracellular pathogens through lysosomal degradation. (hindawi.com)
  • Before the bile acids leave the liver, they are conjugated to a molecule of either glycine or taurine, producing the conjugated bile salts glycocholic or taurocholic acid and glycochenodeoxycholic or taurochenodeoxycholic acid. (pharmacy180.com)
  • Bile salts (deprotonated) are more amphipathic than bile acids (protonated) and, therefore, are more effective emulsifiers of dietary fat. (pharmacy180.com)
  • In the intestine, bacteria can remove the glycine and taurine and can remove a hydroxyl group from the steroid nucleus, producing the secondary bile salts, deoxycholic and lithocholic acids. (pharmacy180.com)
  • Type 3 (chronic neuronopathic form) can begin at any time in childhood or even in adulthood. (nih.gov)
  • Stat3-mediated alterations in lysosomal membrane protein composition. (uni-bielefeld.de)
  • B) CD4+ T cell transmigration across the endothelial monolayer formed by lal+/+ or lal-/- ECs was examined. (icbinhibitor.com)
  • BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. (inra.fr)
  • Approximately one-third of individuals with the later-onset form have malabsorption, diarrhea, vomiting, and steatorrhea. (medlineplus.gov)
  • Prenatal diagnosis is based on the absence of acid lipase activity in cultured chorionic villi. (msdmanuals.com)
  • ceramid, ikke identificeret før 1967, da det blev isoleret fra en biopsi af en patients nyre (3). (biomedicalhouse.com)
  • Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. (inra.fr)
  • Diagnosis is based on clinical features and DNA analysis and/or detection of acid lipase deficiency in liver biopsy specimens or cultured skin fibroblasts, lymphocytes, or other tissues. (msdmanuals.com)