inborn lysosomal enzyme disorder

[inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. ( CSP )]

UMLS (CSP) C0085078

Disease or Syndrome

Relation/PAR: Congenital Metabolic Disorder

Relation/CHD: cholesterol ester storage disease
alpha fucosidase deficiency
Gangliosidoses
I cell disease
beta galactocerebrosidase deficiency
arylsulfatase A deficiency
Mucopolysaccharidoses
Sphingolipidoses
Wolman Disease
mannosidase deficiency
cholesterol ester storage disease
Mucopolysaccharidoses
Wolman Disease
Lysosomal Storage Diseases, Nervous System
mannosidase deficiency

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