Krabbe Disease

(Krabbe disease; galactosylceramide lipidosis-, globoid cell leukodystrophy)

When Krabbe disease is a sphingolipidosis, an inherited metabolic disorder, mental retardation, paralysis, blindness, deafness and seizures caused pseudobulbar and leads to death.

For more information, see Table sphingolipidosis.

When Krabbe disease is a sphingolipidosis, an inherited metabolic disorder, mental retardation, paralysis, blindness, deafness and seizures caused pseudobulbar and leads to death. For more information, see Table sphingolipidosis. See also procedure in a patient suspected of having a congenital metabolic disorder The Krabbe disease is caused by an autosomal recessive galactocerebroside-?-Galactosidasemangel, are affected by the infants. The disease is characterized by mental retardation, paralysis, blindness, deafness and pseudobulbar seizures and leads to death. The diagnosis Krabbe disease is confirmed by an enzyme deficiency in the white blood cells or cultured skin fibroblasts. (See also check on suspicion of inherited metabolic disorders.) Because a bone marrow transplant effectively delays the onset of symptoms, in some regions, an appropriate prenatal or neonatal screening carried out.

Health Life Media Team

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