beta galactocerebrosidase deficiency

[inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation. ( CSP )]

UMLS (CSP) C0023521

Disease or Syndrome

Relation/PAR: LEUKODYSTROPHY
Sphingolipidoses
inborn lysosomal enzyme disorder
enzyme deficiency
Hereditary Central Nervous System Demyelinating Diseases

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