Krabbe disease
Summary of Krabbe disease
Krabbe disease is a rare, often fatal, degenerative disorder that affects the myelin sheath of the nervous system. It is characterized by deficiency of the enzyme galactocerebrosidase and subsequent accumulation of galactocerebroside and psychosine. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. This condition is inherited in an autosomal recessive pattern.