Krabbe disease

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Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency

• Infantile irritability and sensitivity to loud sounds
• Feeding difficulties
• Vomiting
• Failure to thrive
• Unexplained fevers
• Changing muscle tone from floppy to rigid
• Seizures, deterioration in function of nerves in brain and body
• Infant who ceases to follow faces or motion (indicates blindness)
• Decreased hearing that progresses to deafness

Examination of the retina may show optic atrophy. Abnormal posturing may be evident (opisthotonos and decerebrate posturing) in late stages of the disorder. There may be signs of deafness.

Tests:

• Galactocerebroside beta-galactosidase levels in white blood cells 
• CSF total protein (may be increased)
• MRI of the head  (the best test to reveal abnormal white matter of the brain)
• Nerve conduction velocity (showing delayed nerve conduction and evidence of demyelination)
• Genetic testing for mutations in the galactosylceramidase gene (GALC)

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.