Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Synonyms: Enzyme Disorder, Lysosomal, Disease, Lysosomal Storage, Lysosomal Storage Diseases, Diseases, Lysosomal Storage, Lysosomal Storage Disease, Lysosomal Enzyme Disorders, Enzyme Disorders, Lysosomal, Disorder, Lysosomal Enzyme, Lysosomal Enzyme Disorder, Disorders, Lysosomal Enzyme
Instance information
comment
92 ,an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
identifier
D016464