Metabolism


  • Cystinosis (Fanconi syndrome)

  • Homocystinuria

  • Maple syrup urine disease

  • Phenylketonuria

  • Albinism

  • Alkaptonuria

  • Cystinuria

  • Hartnup disease

  • Galactossaemia

  • Glysogen storage diseases

  • Mucopolysaccharidoses

  • Gaucher disease

  • Niemann-Pick disease

  • Tay-Sachs disease

  • Hyperlipidaemia / Hypercholesterolaemia

  • Hyperuricaemia

  • Subacute necrotising encephalomyelopathy (Leigh encephalopathy)

  • Orotic aciduria

  • Acrodermatitis enteropathica

  • Menkes kinky hair syndrome

  • Wilson disease

  • Adrenoleukodystrophy

  • Chondrodysplasia punctata

  • Zellweger syndrome

  • Porphyrias

  • Urea cycle defects