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Lysosomal Storage Diseases, Nervous System

Categorical breakdown of terms falling inder the category of Lysosomal Storage Diseases, Nervous System. Sub categories will become more specific in nature to the terms listed for Lysosomal Storage Diseases, Nervous System.

Sub-Categories

Terms

Fabry Disease - An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. I...

Farber Lipogranulomatosis - A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous dep...

Fucosidosis - An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activi...

Gangliosidoses - A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDE...

Gangliosidoses, GM2 - A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) ...

Gangliosidosis, GM1 - An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACT...

Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE)...

Glycogen Storage Disease Type II - An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE d...

Leukodystrophy, Globoid Cell - An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to ...

Leukodystrophy, Metachromatic - An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to ...

Lysosomal Storage Diseases, Nervous System - A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal sy...

Mucolipidoses - A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of ac...

Multiple Sulfatase Deficiency Disease - An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containin...

Niemann-Pick Disease, Type A - The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIEST...

Niemann-Pick Disease, Type B - An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation...

Niemann-Pick Disease, Type C - An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL a...

Niemann-Pick Diseases - A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the vis...

Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...

Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOS...

Sea-Blue Histiocyte Syndrome - A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID...

Sialic Acid Storage Disease - Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that ...

Sphingolipidoses - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGO...

Sulfatidosis - A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-...

Tay-Sachs Disease - An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exagge...

Tay-Sachs Disease, AB Variant - A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startl...