Lysosomal Storage
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Lysosomal Storage conditions
Fabry DiseaseFabry Disease is a genetic lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to glycolipid buildup and multisystem symptoms.Gaucher DiseaseGaucher Disease is a lysosomal storage disorder caused by glucocerebrosidase deficiency leading to macrophage accumulation and hepatosplenomegaly.Hunter SyndromeHunter Syndrome is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency leading to glycosaminoglycan accumulation.Hurler SyndromeHurler Syndrome is a mucopolysaccharidosis caused by alpha-L-iduronidase deficiency leading to glycosaminoglycan accumulation and progressive multisystem damage.Krabbe DiseaseKrabbe Disease is a rare inherited disorder caused by galactocerebrosidase deficiency leading to progressive demyelination and severe neurological decline in infants.Metachromatic LeukodystrophyMetachromatic leukodystrophy is a lysosomal storage disorder caused by arylsulfatase A deficiency, leading to progressive demyelination and neurological decline.Mucolipidosis Type II (Inclusion Cell Disease)Mucolipidosis Type II (Inclusion Cell Disease) causes defective lysosomal enzyme targeting leading to severe developmental delays and skeletal abnormalities in infants.Niemann-Pick DiseaseNiemann-Pick Disease is a genetic lysosomal storage disorder causing harmful lipid accumulation in cells, leading to organ enlargement and neurological decline.Tay-Sachs DiseaseTay-Sachs disease is a fatal lysosomal storage disorder caused by HEXA gene mutations leading to GM2 ganglioside accumulation and progressive neurodegeneration.