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Lysosomal Storage Diseases

More information in Books or onNLM PubMed
Definition: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.  an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES   
Examples Aspartylglucosaminuria; Cholesterol Ester Storage Disease; Cystinosis; Lysosomal Storage Diseases, Nervous System; Mannosidase Deficiency Diseases; Mucopolysaccharidoses; Pycnodysostosis 		Other names Lysosomal Enzyme Disorders; Lysosomal Storage Disease; Lysosomal Enzyme Disorder; Enzyme Disorders, Lysosomal; Enzyme Disorder, Lysosomal; Disorders, Lysosomal Enzyme; Disorder, Lysosomal Enzyme; Diseases, Lysosomal Storage; Disease, Lysosomal Storage
 
SubstanceCAS Registry & nameCategoriesSource
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency  0   *Lysosomal Storage Diseases alpha-N-Acetylgalactosaminidase/deficiency.
Kanzaki disease  0   *Lysosomal Storage Diseases alpha-N-Acetylgalactosaminidase/deficiency.
Schindler disease, type 1  0   *Lysosomal Storage Diseases *Neuroaxonal Dystrophies alpha-N-Acetylgalactosaminidase/deficiency.
Vacuolar myopathy  0   *Muscular Diseases *Lysosomal Storage Diseases.
Neuraminidase deficiency with beta-galactosidase deficiency  0   *Lysosomal Storage Diseases.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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