Professional
Technical
IVT
Krabbe disease
Pronunciation: KRAB-ay
A rare lysosomal storage disorder affecting the nervous system, included in expanded newborn screening panels in some jurisdictions.
Full Definition
Krabbe disease is a progressive, degenerative disorder caused by deficiency of the enzyme galactocerebrosidase. It affects the white matter of the nervous system and is fatal if untreated. Early detection through newborn screening allows for potential treatment with hematopoietic stem cell transplantation before symptom onset. The condition is measured through enzyme activity assays on dried blood spots.
Usage
Usage note: Always capitalize when referring to the eponymous disease. Distinguish from other leukodystrophies in screening contexts.
In Context
- "The laboratory reported elevated psychosine levels consistent with Krabbe disease." — screening report
- "Krabbe disease screening was added to the state panel following advocacy efforts." — policy document
Also known as
globoid cell leukodystrophy
galactocerebrosidase deficiency
Don't confuse with
Canavan disease
metachromatic leukodystrophy