Article
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2018
Tuncer Feyza Nur, Iseri Sibel Aylin Ugur, Yapici Zuhal, Demir Mahmut, Karaca Meryem, Calik Mustafa
Abstract excerpt
Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal storage disorder involving the white matter of the peripheral and the central nervous systems. It is caused by a deficiency of galactocerebrosidase enzyme activity. The most common manifestation is the classical early onset KD that leads to patient's loss before the age of 2. Herein, we report the evaluation of a consanguineous...
Topics
- Brain
- Consanguinity
- Family
- Fatal Outcome
- Female
- Galactosylceramidase
- Homozygote
- Humans
- Infant
- Leukodystrophy, Globoid Cell
- Male
- Mutation