Hereditary white matter disorders - Classified
Hereditary disorders
Lysosomal disorders
- Metachromatic leukodystrophy
- Krabbe's disease (globoid cell leukodystrophy)
- GM1 gangliosidosis (infantile variant)
- GM2 gangliosidosis (infantile variant)
- Infantile neuronal ceroid lipufuscinosis
- Fabry's disease
- Sialic acid storage disorder, Salla disease
- Fucosidosis
- Mucoploysaccharidoses
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
- Sjögren-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-Goutières syndrome