Krabbe disease
Medical condition / From Wikipedia, the free encyclopedia
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Krabbe disease (KD) (also known as globoid cell leukodystrophy[3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1961).[4]
Quick Facts Other names, Specialty ...
Krabbe disease | |
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Other names |
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A histopathology slide of a brain with Krabbe disease showing giant cells with PAS stain inclusions ("globoid cells") within astrocytic gliosis and loss of myelinated fibers. | |
Specialty | Metabolic disorder |
Symptoms |
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Usual onset | Within 3 to 6 months of birth, but can present in childhood or even adulthood |
Types | Infantile, juvenile and adult |
Causes | Mutation of GALC gene |
Risk factors | Parents who are heterozygous (only one copy) for the mutation to the GALC gene |
Diagnostic method | Histopathology, genetic testing[1] |
Prevention | Prenatal diagnosis and screening of at-risk couples[1] |
Treatment | Symptomatic and supportive treatment only, but stem cell transplantation may be beneficial[1] |
Prognosis | One-, two-, and three-year survival rates of 60%, 26%, and 14%, respectively[2] |
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