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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

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