Krabbe disease is a rare, inherited condition that affects the myelin that covers and protects your nerve cells, causing neurological issues. It gets worse over time and usually results in death. While it typically affects babies under the age of 1, it can also affect older children and adults. What is Krabbe disease?

Krabbe disease (KD) (also known as globoid cell leukodystrophy [3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system.

2021年1月7日 · Krabbe disease is a rare genetic disorder of the nervous system that usually results in death. People with Krabbe disease have a deficiency of galactosylceramidase production, which...

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 (demyelination) in the nervous system.

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.

2020年11月8日 · Krabbe disease is an autosomal recessive neurodegenerative disorder. The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC).

2024年3月13日 · Krabbe disease belongs to a group of disorders called leukodystrophies, rare genetic disorders that affect the white matter of the brain. Krabbe disease is characterized by a deficiency in the enzyme galactocerebrosidase (GALC) which is an enzyme that uses water molecules to break down certain fats (lipids).

Krabbe disease is an autosomal recessive disorder resulting from a deficiency in an enzyme known as galactocerebrosidase (GALC). GALC is an enzyme that breaks down molecules called galactolipids, which are heavily present in the brain.

2023年4月24日 · Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy. A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase). The body needs this enzyme to make myelin.

Krabbe disease occurs when the body lacks enzymes needed to break down fats (lipids). Symptoms may include paralysis, intellectual disability, and blindness. The diagnosis is based on blood tests.