Insights into the Pathogenesis and Treatment of Krabbe Disease

Pediatr Endocrinol Rev. 2016 Jun:13 Suppl 1:689-96.

Abstract

Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency in the lysosomal enzyme galactocerebrosidase (GALC). The major galactosylated lipid degraded by GALC is galactosylceramide. However, GALC is also responsible for the degradation of galactosylsphingosine (psychosine), a highly cytotoxic glycolipid. It has been hypothesized that GALC-deficiency leads to psychosine accumulation that preferentially kills oligodendrocytes in the central nervous system and Schwann cells in the peripheral nervous system. Krabbe disease has traditionally been considered a white matter disease characterized by the loss and disorganization of myelin, infiltration of multinucleated monocytes/macrophages (globoid cells) and lymphocytes, and dysregulation of pro-inflammatory cytokines and chemokines. However, new studies have revealed unexpected neuronal deficiencies. Infantile Krabbe disease is believed to be the most common and aggressive form. However, juvenile and adult onset forms have been described. Children affected with infantile Krabbe disease present with motor dysfunction, cognitive decline, intractable seizures, and premature death between two to five years of age. Murine, canine, and primate models of GALC deficiency have been described and have played an important role in our understanding of this invariably fatal disease. Although there is no cure for Krabbe disease, hematopoietic stem cell transplantation can slow the progression of disease. Recent pre-clinical data indicate that simulataneously targeting multiple pathogenic mechanisms greatly increases efficacy in the murine model of Krabbe disease. A better understanding of the underlying pathogenesis will identify new therapeutic targets that may further increase efficacy.

Publication types

  • Review

MeSH terms

  • Acetylcysteine / therapeutic use
  • Animals
  • Antimetabolites / therapeutic use
  • Bone Marrow Transplantation*
  • Central Nervous System / metabolism
  • Central Nervous System / physiopathology
  • Cycloserine / therapeutic use
  • Disease Models, Animal
  • Enzyme Replacement Therapy*
  • Free Radical Scavengers / therapeutic use
  • Galactosylceramidase / genetics
  • Galactosylceramidase / therapeutic use*
  • Genetic Therapy*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Leukodystrophy, Globoid Cell / genetics
  • Leukodystrophy, Globoid Cell / physiopathology
  • Leukodystrophy, Globoid Cell / therapy*
  • Phenotype
  • Phosphodiesterase Inhibitors / therapeutic use
  • Pyridines / therapeutic use

Substances

  • Antimetabolites
  • Free Radical Scavengers
  • Phosphodiesterase Inhibitors
  • Pyridines
  • Cycloserine
  • Galactosylceramidase
  • ibudilast
  • Acetylcysteine