Autosomal recessive congenital metabolic disease

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• Parents

  • Congenital metabolic disease
  • Autosomal recessive disorder

• Children

  • Aminoacidopathies
  • Lysosomal storage disorder
  • Bilurubin metabolism disorder
  • Renal metabolic disorder
  • Albinism
  • Adenine phosphoribosyltransferase deficiency
  • 5-alpha-reductase deficiency
  • Aromatic acid decarboxylase deficiency
  • Bassen-Kornzweig syndrome
  • Biotinidase deficiency
  • Dysbetalipopriteinaemia
  • Fructosaemia
  • Galactosaemia
  • Primary haemochromatosis
  • Hartnup disease
  • Hereditary organic acidosis
  • 21-hydroxylase deficiency
  • Familial hypercalciuric hypercalcaemia
  • Hypophosphatasia
  • Congenital methaemoglobinemia
  • Methylenetetrahydrofolate reductase deficiency
  • NADH-cytochrome b5 reductase deficiency
  • Purine nucleoside phosphorylase deficiency
  • Pyrimidine-5-nucleotidase deficiency
  • Refsum disease
  • Tangier disease
  • Uridine monophosphate synthase deficiency
  • Cerebral X-linked adrenoleukodystrophy