Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function...
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lysosomal storage disease. The condition is caused by a mutation of the LIPA gene, which encodes the lysosomal lipase protein (also called lysosomal acid...
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Sanfilippo syndrome (redirect from San filippo disease)
mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused...
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Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated...
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most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional...
30 KB (3,303 words) - 02:36, 22 May 2024
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective...
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Salla disease (SD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first...
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nervous system. GSD-II and Danon disease are the only glycogen storage diseases characterised by a defect in lysosomal metabolism. It was first identified...
36 KB (4,304 words) - 19:35, 8 June 2024
Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that...
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Cystinosis (redirect from Cystine storage disease)
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is...
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skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with...
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Mucopolysaccharidosis (redirect from Mucopolysaccharide disease)
system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of genetic disorders that result when the lysosome...
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of sphingolipidosis, which is included in the larger family of lysosomal storage diseases. Symptoms are related to the organs in which sphingomyelin accumulates...
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Hunter syndrome (redirect from Hunter's disease)
in body tissues. It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S)...
22 KB (2,558 words) - 17:43, 27 March 2024
Pycnodysostosis (category Lysosomal storage diseases)
dys ("defective"), and ostosis ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme...
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excess ganglioside storage. Unlike other lysosomal storage diseases (e.g., Gaucher disease, Niemann–Pick disease, and Sandhoff disease), hepatosplenomegaly...
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Hurler syndrome (redirect from Hurler's disease)
Scheie syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however...
16 KB (1,783 words) - 13:40, 20 November 2023
Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick...
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Hepatosplenomegaly (category Diseases of liver)
histoplasmosis or it can be the sign of a serious and life-threatening lysosomal storage disease. Systemic venous hypertension can also increase the risk for developing...
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Inborn errors of metabolism (redirect from Storage disease)
metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In...
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In 2011, he became a cause ambassador to promote awareness of lysosomal storage diseases. As of 2015, he is the treasurer of the Nadigar Sangam. Karthi...
67 KB (4,953 words) - 23:28, 5 June 2024
this intracellular material are part of the lysosomal storage diseases family of disorders. Many lipid storage disorders can be classified into the subgroup...
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available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. ERT does not correct...
13 KB (1,367 words) - 23:00, 31 December 2023
Acid sphingomyelinase (category Lysosomal storage diseases)
decrease in intracellular L-SMase is observed. The lysosomal storage disorders Niemann-Pick disease, SMPD1-associated (type A and B) are characterized...
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Metabolic disorder (redirect from Metabolic disease)
Metabolic Myopathies Lysosomal storage disease Deficiency disease Hypermetabolism Citrullinemia "MeSH Descriptor Data: Metabolic diseases". National Library...
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Sly syndrome (category Rare diseases)
mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase. This enzyme...
6 KB (595 words) - 21:07, 18 October 2023
sleep apnea, and heart disease may develop in adolescence. Hurler–Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler–Scheie...
3 KB (188 words) - 04:49, 4 March 2024
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting...
68 KB (6,090 words) - 19:33, 8 June 2024
may refer to: San Filippo syndrome, rare autosomal recessive lysosomal storage disease San Filippo del Mela, comune in the Metropolitan City of Messina...
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