Krabbe disease

Abstract

Globoid cell leukodystrophy (GLD), also known as Krabbe disease (KD), is an autosomal recessive disorder and is a lysosomal storage disease (LSD). The disease is due to a mutation of the GALC gene which causes a deficiency in the activity of galactocerebrosidase (GALC) enzyme that is responsible for the catabolism of certain glycolipids such as galactoceramide and galactosylsphingosine (Galsph or psychosine). Loss of normal myelin function in the central nervous system (CNS) and peripheral nervous system (PNS) are observed as clinical manifestations of KD. KD is divided into three subtypes: an infantile form - the most common and severe, a juvenile form, and a rare adult form. The current therapeutic approach to treat KD is hematopoietic stem cell transplant (HSCT). This chapter summarizes the disease's clinical manifestations and classification, epidemiology, pathophysiology, available treatment, and future options.