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Krabbe disease is a hereditary condition passed on to biological children through a gene. It’s inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
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.
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).
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 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.
What is Krabbe Disease? Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy. Krabbe disease is described as a severe neurological condition that results from the loss of the protective covering (myelin sheath) surrounding nerve cells.
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 months and as late as the seventh decade).
Krabbe disease is a type of lysosomal storage disorder called a sphingolipidosis. It causes intellectual disability, paralysis, blindness, deafness, and eventually death. Krabbe disease occurs when parents pass on to their children the defective gene that causes this disease.
Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. Diagnosis is by DNA analysis and/or enzyme analysis of white blood cells or skin fibroblasts.