pediatrics
Krabbe Disease
Introduction
Krabbe disease is a Sphingolipidoses , an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. For more information, see table Some Sphingolipidoses . Also see Approach to the Patient With a Suspected Inherited Disorder of Metabolism . Krabbe disease is caused by an Autosomal Recessive galactocerebroside beta-galactosidase deficiency. There are 4 forms: infantile, late infantile, juvenile, and adult. 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 Initial testing .) Because bone marrow or stem cell transplantation prolongs life span and improves functional abilities of children who have the infantile or late infantile form, prenatal testing or Screening Tests for Newborns (currently available in 10 states in the US) is sometimes done. Treatment of Krabbe disease is supportive. 