Hereditary white matter disorders - Classified

Hereditary disorders

Lysosomal disorders

Peroxisomal disorders

  • Zellweger syndrome
  • Neonatal adrenoleukodystrophy
  • Infantile Refsum disease
  • Zellweger-like syndrome
  • Pseudo-Zellweger syndrome
  • Pseudo-neonatal adrenoleukodystrophy
  • Bifunctional protein deficiency
  • X-linked adrenoleukodystrophy and adrenomyeloneuropathy
  • Refsum disease

Mitochondrial disorders

  • Respiratory chain defects
  • Cerebrotendinous xanthomatosis

DNA repair disorders

  • Cockayne's disease
  • PIBD orTay syndrome

Defects in myelin proteins

  • Pelizaeus-Merzbacher disease
  • 18q- syndrome

Amino acidopathies and organic acidopathies

  • Phenylketonuria
  • Glutaric aciduria type I
  • Propionic aciduria
  • Nonketotic hyperglycinemia
  • Maple syrup urine disease
  • Canavan's disease
  • L-2-hydroxyglutaric aciduria
  • Hyperhomocysteinemias
  • Urea cycle defects
  • 3-hydroxy-3-methylglutaryl Coenzyme A lyase deficiency
  • Serine synthesis defect

Miscellaneous

  • Galactosemia
  • Sj√∂gren-Larsson syndrome
  • Lowe syndrome
  • Wilson disease
  • Alexander disease
  • Myotonic dystrophy
  • Congenital muscular dystrophies
  • Megalencephalic leukoencephalopathy with subcortical cysts
  • Vanishing white matter / CACH
  • Hypomyelination with atrophy of basal ganglia and cerebellum
  • Aicardi-Gouti√®res syndrome