Aug 13, 2022 · Krabbe disease is caused by mutations in a gene known as GALC, which results in a lack of an enzyme called galactocerebrosidase. Your body needs this enzyme for the …

Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of …

Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin …

The GALC gene provides instructions for making an enzyme called galactosylceramidase. Through a process called hydrolysis, this enzyme uses water molecules to break down certain …

Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive disorder caused by a deficiency of the enzyme, galactocerebrosidase (GALC). GALC facilitates the lysosomal …

Dec 25, 2024 · GALC (Galactosylceramidase) is a Protein Coding gene. Diseases associated with GALC include Krabbe Disease and Spastic Ataxia. Among its related pathways are …

GALC encodes the lysosomal enzyme galactosylceramidase, which plays a pivotal role in the glycosphingolipid metabolism pathway. It is still unclear whether GALC is the gene driving the …

A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. GALC variants affect galactosylceramidase …

Nov 14, 2024 · Title: A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. GALC variants affect …

Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase …