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