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?

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 results in...

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. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.

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. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals.

2023年8月23日 · Krabbe disease, an autosomal recessive disease, is a type of lysosomal storage disorder that results from the deficiency of the enzyme galactocerebrosidase. As a result, there is an accumulation of the toxic compound psychosine, principally in the central and peripheral nervous systems, which leads to widespread neurological symptoms.

2024年3月13日 · Previous section; Next section > Causes. Krabbe disease is an autosomal recessive genetic disorder caused by changes called pathogenic variants in the GALC gene. The gene variants lead to a deficiency in the enzyme galactosylceramidase.

2000年6月19日 · Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 …

Krabbe disease is an inherited (genetic) condition that prevents the body from recycling galactolipids. Krabbe disease is named for the first doctor to describe the condition. Galactolipids are important for cells in the body to work properly, but when they can’t be recycled, they start to …

Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy Another name for Krabbe disease, a rare and usually fatal disorder of the nervous system..

Krabbe disease is a rare genetic condition affecting approximately 1 in 100,000 people in the United States. There are multiple types of Krabbe disease including Early Infantile, Late Infantile, Juvenile Onset, and Adult Onset. Each person with Krabbe disease is …