Krabbe disease
A progressive degenerative disorder of the nervous system due to mutation in the galactosylceramidase (GALC) gene, leading to the accumulation of galactocerebroside and destruction of myelin, a fatty material that surrounds and insulates nerves. (Galactocerebroside is a component of myelin.) Most (85-90%) patients with Krabbe disease have the infantile form. During the first few months of life they seem normal but extreme irritability, spasticity, and developmental delay become evident before 6 months of age. Neurological deterioration leads to death (on the average at 13 months of age). The balance (10-15%) of patients with Krabbe disease have a later onset of symptoms with slower progression of the disease. The onset may be any time after 6 months up into the 5th decade of life. They are normal until the symptoms of weakness and loss of vision and intellectual capacities become apparent. Their clinical course is variable. Krabbe disease is inherited in an autosomal recessive manner. Couples with an affected child with each pregnancy have a 25% chance of an affected child, a 50% chance of a healthy child who is a carrier, and a 25% chance of a healthy child who is not a carrier. Krabbe disease is diagnosed by finding with 5% or less of normal GALC activity. Carrier testing is currently not reliable. Prenatal diagnosis is feasible. The disease is named for the Danish neurologist Knud Haraldsen Krabbe (1885-1965) who described it in 1913-16. The disease is also known as galactocerebrosidase deficiency, GALC deficiency, GLD, and globoid cell leukodystrophy.

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a lysosomal storage disease due to a deficiency of galactosylceramidase. It begins in infancy with irritability, fretfulness, and rigidity, followed by tonic seizures, convulsions, quadriplegia, blindness, deafness, dysphagia, and progressive mental deterioration. Pathologically, there is rapidly progressive cerebral demyelination and large globoid bodies in the white substance. Called also galactosylceramide lipidosis and globoid cell or Krabbe leukodystrophy.

Medical dictionary. 2011.

Look at other dictionaries:

  • Krabbe disease — Classification and external resources ICD 10 E75.2 ICD 9 330.0 …   Wikipedia

  • Krabbe disease — Krabbe disease. См. болезнь Краббе. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Krabbe disease (leukodystrophy) — Krab·be disease (leukodystrophy) (krahґbə) [Knud H. Krabbe, Danish neurologist, 1885–1961] see under disease …   Medical dictionary

  • Krabbe's disease — Krab·be s disease krab ēz n a rapidly progressive demyelinating familial leukoencephalopathy with onset in infancy characterized by irritability followed by tonic convulsions, quadriplegia, blindness, deafness, dementia, and death Krabbe kräb ə… …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Krabbe — Knud H., Danish neurologist, 1885–1961. See K. disease, Christensen K. disease …   Medical dictionary

  • Krabbe leukodystrophy — see under disease …   Medical dictionary

  • Maladie de Krabbe — Référence MIM 245200 Transmission Récessive Chromosome 14q31 Gène GALC Empreinte parentale Non …   Wikipédia en Français

  • Maladie De Krabbe — Maladie de Krabbé Autre nom Déficit en galactocérébroside Référence MIM …   Wikipédia en Français

  • Maladie de krabbe — Maladie de Krabbé Autre nom Déficit en galactocérébroside Référence MIM …   Wikipédia en Français

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