Disease or Syndrome
Krabbe's disease
Subclass of:
Sphingolipidoses
Also called:
Krabbe Disease; Galactosylceramide Lipidosis; Krabbe's Disease
Definitions related to globoid cell leukodystrophy:
-
(krabbe disease) A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.NCI ThesaurusU.S. National Cancer Institute, 2021
-
(krabbe's disease) Inherited, demyelinating, human lipid storage disease caused by a deficiency of galactosylceramidase; manifestations include convulsions, quadriplegia, blindness, deafness, and mental retardation.CRISP ThesaurusNational Institutes of Health, 2006
-
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). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.GeneReviewsUniversity of Washington, 2021
-
(leukodystrophy, globoid cell) An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. For more information, see table Some Sphingolipidoses.Merck & Co., Inc., 2020
-
Krabbe disease is an autosomal recessive sphingolipidosis caused by deficient activity of the lysosomal hydrolase galactosylceramide beta-galactosidase (GALC). GALC degrades galactosylceramide, a major component of myelin, and other terminal beta-galactose�containing sphingolipids, including psychosine (galactosylsphingosine).WebMD, 2019
-
Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.Mayo Foundation for Medical Education and Research
-
Krabbe disease is an inherited condition that affects the nervous system. The signs and symptoms of the condition and the disease severity differ by type. Babies affected by early-onset (infantile) Krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. Symptoms of...National Center for Advancing Translational Sciences
Return to OpenMD Medical Dictionary
> K
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.