Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function...

different human genetic disorders collectively known as lysosomal storage diseases. These diseases result in an accumulation of specific substrates, due...

lysosomal storage disease. The condition is caused by a mutation of the LIPA gene, which encodes the lysosomal lipase protein (also called lysosomal acid...

Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated...

mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused...

most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional...

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...

nervous system. GSD-II and Danon disease are the only glycogen storage diseases characterised by a defect in lysosomal metabolism. It was first identified...

Salla disease (SD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first...

Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that...

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is...

skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with...

system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of genetic disorders that result when the lysosome...

of sphingolipidosis, which is included in the larger family of lysosomal storage diseases. Symptoms are related to the organs in which sphingomyelin accumulates...

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)...

excess ganglioside storage. Unlike other lysosomal storage diseases (e.g., Gaucher disease, Niemann–Pick disease, and Sandhoff disease), hepatosplenomegaly...

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...

Scheie syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however...

Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick...

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...

decrease in intracellular L-SMase is observed. The lysosomal storage disorders Niemann-Pick disease, SMPD1-associated (type A and B) are characterized...

metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In...

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...

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...

this intracellular material are part of the lysosomal storage diseases family of disorders. Many lipid storage disorders can be classified into the subgroup...

Metabolic Myopathies Lysosomal storage disease Deficiency disease Hypermetabolism Citrullinemia "MeSH Descriptor Data: Metabolic diseases". National Library...

A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting...

sleep apnea, and heart disease may develop in adolescence. Hurler–Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler–Scheie...

mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase. This enzyme...

may refer to: San Filippo syndrome, rare autosomal recessive lysosomal storage disease San Filippo del Mela, comune in the Metropolitan City of Messina...