(Krabbe's Disease; Galactosylceramide Lipidosis; Globoid Cell Leukodystrophy)
Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.
For more information, see Table Sphingolipidosis.
Krabbe disease is caused by an autosomal recessive galactocerebroside β-galactosidase deficiency.
It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.
Diagnosis of Krabbe disease is by detecting enzyme deficiency in WBCs or cultured skin fibroblasts. (Also see testing for suspected inherited disorders of metabolism.)
Because bone marrow transplantation effectively delays onset of symptoms, prenatal testing or neonatal screening (routine in New York) is sometimes done.