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 metabolism of galactocerebroside, a component of myelin (the protective sheath around nerves).

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 fats called galactolipids, which are found primarily in the nervous system and kidneys.

Mutations in the GALC gene cause Krabbe disease. This gene provides instructions for making an enzyme called galactosylceramidase, which breaks down certain fats called galactolipids. One galactolipid broken down by galactosylceramidase, called galactosylceramide, is an important component of myelin.

Mar 30, 2025 · This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.

Jun 19, 2000 · Krabbe disease (also known as galactocerebrosidase [GALC] deficiency) has two major phenotypes that constitute a continuum: The two different scenarios in which Krabbe disease could be suspected in a proband: Scenario 1. A symptomatic individual. Scenario 2. An asymptomatic newborn with a positive result on NBS.

Nov 8, 2020 · Krabbe disease is an autosomal recessive neurodegenerative disorder.[1][2] The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC).

Krabbe disease is caused by genetic variants in the GALC gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing.

Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. [1]

Nov 14, 2024 · This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.

Sep 14, 2016 · 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 fats called galactolipids, which are …