Krabbe disease


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glo·boid cell leu·ko·dys·tro·phy

[MIM*245200]
a metabolic disorder of infancy or early childhood characterized by spasticity, seizures, and rapidly progressive cerebral degeneration, massive loss of myelin, severe astrocytic gliosis, and infiltration of the white matter with characteristic multinucleate globoid cells; metabolically there is gross deficiency of lysosomal cerebrosidase (galactosylceramide β-galactosidase); autosomal recessive inheritance, caused by mutation in the gene encoding glycosylceramidase (GALC) on 14q.

Krabbe disease

(krab′ē)
[Knud H. Krabbe, Danish neurologist, 1885–1961]
Globoid cell leukodystrophy due to the accumulation of galactocerebroside in the tissues, resulting from a deficiency of galactocerebrosidase. Clinically, affected infants develop seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. Survival beyond 2 years is rare.

Krabbe,

Knud Haraldsen, Danish neurologist, 1885-1961.
Christensen-Krabbe disease - see under Christensen
Krabbe disease - a metabolic disorder of infancy. Synonym(s): globoid cell leukodystrophy
References in periodicals archive ?
She suffered from a rare genetic condition called Krabbe Disease, which affects the nervous system.
The New York State NBS Program has developed such a follow-up program for asymptomatic infants with high suspicion of later-onset Krabbe disease across multiple clinical centers and specialties.
Without it, the boys - who suffer from Krabbe disease which destroys young bodies - would most likely be dead.
The product is intended for the treatment of Type 1 - Early Infantile Krabbe disease, a rare genetic degenerative disorder for which there is no cure and is generally fatal before two years of age.
TWIN brothers Luis and Kian King have been given new hope in their battle against their lifethreatening condition - Juvenile Krabbe Disease - because a stem cell donor has been found.
2014) Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
It includes Krabbe disease (KD) or globoid cell leukodystrophy (GLD), Canavan disease, Pelizaeus-Merzbacher disease and Alexander disease.
Detection of the neurotoxin psychosine in samples of peripheral blood: application in diagnostics and follow-up of krabbe disease.
Ernesto Bongarzone (USA) Mechanism of axonpathy in Krabbe disease.
At 10 months, LeA was diagnosed with Krabbe disease, which is part of a group of more than 40 rare diseases known as Lysosomal Storage Disease (LSDs.
Jack MacPherson was just 21-months-old when he was killed by Krabbe disease, an incurable condition of the nervous system.
Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: Initial experience.