Krabbe disease

Krabbe disease
Krabbe disease
Other names	Globoid cell leukodystrophy; Galactosylceramide lipidosis; GALC deficiency; Galactocerebrosidase deficiency;
	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	Infancy: Developmental delay, irritability, spasticity, hypotonia, microcephaly, optic atrophy; Juvenile: Muscle weakness, vision loss, developmental regression; Adult: Burning paresthesias in extremities, loss of manual dexterity, muscle weakness, sensory neuropathy, muscle atrophy;
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
Prevention	Prenatal diagnosis and screening of at-risk couples
Treatment	Symptomatic and supportive treatment only, but stem cell transplantation may be beneficial
Prognosis	One-, two-, and three-year survival rates of 60%, 26%, and 14%, respectively

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]

^ ^a ^b ^c ^d Cite error: The named reference UpToDateOct18 was invoked but never defined (see the help page).
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^ Li, Y; Sands, MS (November 2014). "Experimental therapies in the murine model of globoid cell leukodystrophy". Pediatric Neurology (Review). 51 (5): 600–6. doi:10.1016/j.pediatrneurol.2014.08.003. PMC 4252788. PMID 25240259.
^ synd/1457 at Whonamedit?

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[Li2014-3] Li, Y; Sands, MS (November 2014). "Experimental therapies in the murine model of globoid cell leukodystrophy". Pediatric Neurology (Review). 51 (5): 600–6. doi:10.1016/j.pediatrneurol.2014.08.003. PMC 4252788. PMID 25240259.

[4] synd/1457 at Whonamedit?

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