Article
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.
American journal of medical genetics. Part A - 1 Jul 2025
McCarron Eamon P, Oldham Andrew, Herwadkar Amit, Jenkinson Sarah, Campbell Christopher, Neal Kate, Church Heather J, Cooper James A, Stepien Karolina M
Abstract excerpt
Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage. The natural history of the attenuated form is poorly understood, but it typically presents with spastic paraparesis, progressing more slowly than the early-onset or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.