Krabbe Disease

Alternative Names

  • Globoid Cell Leukodystrophy
  • Globoid Cell Leukoencephalopathy
  • GLD
  • GCL
  • Galactosylceramide Beta-Galactosidase Deficiency
  • Galactocerebrosidase Deficiency
  • GALC Deficiency
  • Krabbe Leukodystrophy
  • Diffuse Globoid Body Sclerosis
  • Galactosylceramide Lipidosis
  • Galactosylsphingosine Lipidosis
  • Late-Onset Krabbe Disease
  • Psychosine Lipidosis

Associated Genes

Galactosylceramidase
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

245200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q31

Description

Krabbe disease is one of a group of genetic disorders called the leukodystrophies. Leukodystrophies are rare inherited neurometabolic disorders resulting from defects in the synthesis or catabolism of myelin. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. Each of the leukodystrophies affects one of these substances. Krabbe's disease is caused by a deficiency in the lysosomal enzyme galactocerebroside beta-galactosidase (GALC), resulting in accumulation of galactosylceramide within multinucleated macrophages of the white matter, forming globoid cells.

The disorder can be subdivided into three types: the more common infantile form with onset within the first six months; a juvenile form presenting between two and 10 years; and a rarer adult form with onset after 10 years. The infantile form is the most severe, with central demyelination causing irritability, spasticity, ataxia, and seizures. Blindness from optic atrophy, cortical blindness, and deafness may all occur. Peripheral demyelination presents with limb weakness and areflexia. Progressive psychomotor decline results in quadriparesis and death within a few years of onset. Juvenile and adult forms of the disease have a milder phenotype and a slower rate of progression. Symptoms and signs include spasticity, dementia, ataxia, peripheral neuropathy, and loss of vision. Investigations may show milder abnormalities, and nerve conduction can be normal or only mildly affected.

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
245200.1PalestineYesYes Classic infantile krabbe diseaseNM_000153.4:c.1630G>AHomozygousAutosomal, RecessiveZlotogora et al. 1991; Rafi et al. 1996 Patient belongs to a...
245200.2PalestineYesYes Classic infantile krabbe diseaseNM_000153.4:c.1796T>GHomozygousAutosomal, RecessiveZlotogora et al. 1991; Zlotogora et al. 1985; Rafi et al. 1996 Patient belongs to a...

Other Reports

Palestine

Zlotogora (1997) conducted a survey of 2000 different Palestinian Arab families. In 601 cases, an autosomal recessive disease was diagnosed or strongly suspected. The distribution of these disorders was not uniform and some disorders, such as Krabbe disease, were found at high frequency in only a small part of the population.

Korn-Lubetzki et al. (2003) studied eight children diagnosed with Krabbe disease. 

The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1995 and 2004. Among 64 patients diagnosed, two cases of Krabbe disease were recorded in a 4-year-old female and a 6-year-old male from Palestine.

Saudi Arabia

Al-Essa et al. (2000) described a Saudi infant with infantile Krabbe's disease. The patient was born to distantly related parents. 

United Arab Emirates

Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirths in Abu Dhabi between 1992 and 1995 and found one case of Krabbe disease in a consanguineous family from the UAE. Recurrence was reported in the family. 

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