Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death. Diagnosis is by DNA analysis and/or enzyme analysis of white blood cells or skin fibroblasts. Treatment is supportive.
For more information, see table Some Sphingolipidoses.
See also 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 and Treatment of Krabbe Disease
Enzyme analysis
Supportive care
Diagnosis of Krabbe disease is by DNA analysis and/or detecting enzyme deficiency in white blood cells or cultured skin fibroblasts. (See also testing for suspected inherited disorders of metabolism.)
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 neonatal screening (currently available in a number of states in the United States) is sometimes done.
Treatment is supportive.
More Information
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information
KrabbeConnect: Krabbe Disease Newborn Screening: A resource showing which states in the United States currently screen for Krabbe disease in neonates
