GALC mutations in Chinese patients with late-onset Krabbe disease: a case report.

ABSTRACT:

Background

Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme β-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in triggering demyelination. Typically, the disease has an infantile onset, with rapid deterioration in the first few months, leading to death before the age of 2 years. The late onset forms (late-infantile, juvenile, and adult forms) are rare with variable clinical outcomes, presenting spastic paraplegia as the main symptom.

Case presentation

We recruited a family with two affected individuals. The proband (Patient 1), a 25-year-old male, was presented with slow progressive symptoms, inc

SUBMITTER: Zhuang S 

PROVIDER: S-EPMC6560759 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature