Galactocerebrosidase Deficiency
Globoid Cell LeukodystrophyKrabbe Disease
📋Overview
Galactocerebrosidase deficiency is the underlying enzyme deficiency causing Krabbe disease, a rare inherited lysosomal storage disorder. It results from mutations in the GALC gene leading to deficient activity of the galactocerebrosidase enzyme, which is essential for the breakdown of certain lipids in the nervous system. This deficiency causes accumulation of toxic substances, leading to progressive damage of the white matter in the brain and peripheral nerves. Krabbe disease is the modern preferred term for this condition.
Medical codes (for reference)
UMLS CUI: C0023521ICD-10-CM
E75.23
MeSH
D007965
SNOMED CT (US)
192782005189979005
Codes are provided for reference and interoperability. They are not a diagnosis.
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