CPN | Krabbe Disease

Krabbe Disease

(from National Institute of Neurological Disorders). Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a defect in the GALC gene, leading to malfunction of galactocerebrosidase, an essential enzyme for myelin metabolism, and consequent accumulation of a toxic myelin breakdown product. The disease most often affects infants, with onset before age 6 months.

Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which may improve survival and clinical outcomes. However, without a family history, most cases of infantile Krabbe disease present after onset of symptoms and are ineligible for transplantation. Newborn screening for Krabbe is available in only a handful of states.