Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.

ABSTRACT:

Background

Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal disorder, which affects metabolic and neurologic systems. This pathology has different forms. Infantile onset is about 85% to 90% of individuals with Krabbe disease. Disorder's onset is characterized, in early childhood, by hyperirritability, psychomotor deterioration associated to episodes of fever. To date, all reported cases have been attributed to mutations in galactosylceramidase gene (GALC gene) that encodes an enzyme which degrades galactosyl-sphingolipids (galactosylceramide, psychosine), essential in myelin production. A child compounded with two new mutations in the GALC gene was detected.

Case presentation

An eleven month old male child of Moroccan origin presented to

SUBMITTER: Zerkaoui M 

PROVIDER: S-EPMC4644339 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature