Thursday, 13 June 2019

Inborn metabolic brain diseases

Disease class: brain diseases, Metabolic

Types

  • Adrenoleukodystrophy
  • cerebral amyloid angiopathy, Familial
  • Galactosaemias
  • Hartnup disease
  • Hepatolenticular degeneration
  • Hereditary central nervous system demyelinating diseases
  • Homocystinuria
  • Hyperglycinaemia, Nonketotic
  • Hyperlysinaemias
  • Leigh disease
  • Lesch-Nyhan syndrome
  • lysosomal storage diseases, Nervous system
  • Maple syrup urine disease
  • MELAS syndrome
  • Menkes kinky hair syndrome
  • MERRF syndrome
  • Mevalonate kinase deficiency
  • Oculocerebrorenal syndrome
  • Phenylketonurias
  • Pyruvate carboxylase deficiency disease
  • Pyruvate dehydrogenase complex deficiency disease
  • Refsum disease
  • refsum disease, Infantile
  • Tyrosinaemias
  • urea cycle disorders, Inborn
  • Zellweger syndrome 

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