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Lysosomal Storage Diseases
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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
Substance
CAS Registry & name
Categories
Source
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.
