What is Galactocerebrosidase?
The lysosomal galactocerebrosidase (GALC) enzyme, whose inherited deficiency results in the lysosomal storage disorder (LSD) globoid cell leukodystrophy (GLD), catalyzes the hydrolysis of galactose from several glycosphingolipids, including galactosylceramide (Gal-Cer) and galactosylsphingosine (psychosine; Psy), which …
What causes Krabbe’s disease?
Krabbe disease is caused when a person inherits two copies of an altered (mutated) gene — one copy from each parent. A gene provides a kind of blueprint for producing proteins. If there is an error in this blueprint, then the protein product may not work properly.
What does the GALC enzyme do?
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.
What is Krabbe’s leukodystrophy?
Krabbe’s Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine.
Where is Galactocerebrosidase located?
Pathologic findings in the central nervous system include globoid cells, generalized loss of myelin, and almost total loss of oligodendroglia [4,5]. The galactosylceramidase gene (GALC), also known as the galactocerebrosidase gene, is located on chromosome 14q31 [6].
What is the meaning of Pseudodeficiency allele?
A pseudodeficiency allele is a change in the GAA gene sequence which results in lower GAA enzyme activity, but not low enough to cause Pompe disease. Babies with only a pseudodeficiency allele do not have Pompe disease.
Can Krabbe be prevented?
How can Krabbe disease be prevented? If both parents carry the genetic defect that causes Krabbe disease, there’s a 25 percent chance that the child will inherit two copies of the defective gene and therefore have the disease. The only way to avoid the risk is if the carriers decide to not have children.
What is glucocerebrosidase enzyme?
Beta-glucocerebrosidase is a housekeeping enzyme that helps break down a large molecule called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Glucocerebroside is a component of the membrane that surrounds cells.
How common are Pseudodeficiency alleles?
~2% of individuals with enzyme level in the carrier range have pseudodeficiency alleles.
How do people get Pompe?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).