For more information, see table Some Sphingolipidoses.
Krabbe disease is caused by an autosomal recessive galactocerebroside beta-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 DNA analysis and/or detecting enzyme deficiency in white blood cells or cultured skin fibroblasts. (Also see testing for suspected inherited disorders of metabolism.)
Because bone marrow or stem cell transplantation effectively delays onset of symptoms, prenatal testing or neonatal screening (routine in New York) is sometimes done.