From: Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
Amino acid disorders: |
  Phenylalanine hydroxylase deficiency |
 Homocystinuria |
  Maple syrup urine disease |
  Tyrosinemia Type I |
Urea cycle disorders: |
 Arginase deficiency |
 Argininosuccinic acidemia |
 Carbamyl phosphate synthetase deficiency |
  Citrin deficiency |
 Citrullinemia |
 Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome |
 N-acetylglutamate synthetase deficiency |
  Ornithine transcarbamylase deficiency |
Fatty acid oxidation disorders: |
  Medium chain acyl-CoA dehydrogenase deficiency |
 Very long-chain acyl-CoA dehydrogenase deficiency |
  Carnitine uptake defect |
  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
 Trifunctional protein deficiency |
Organic acid disorders or ‘other’ IMD: |
 ß-Ketothiolase deficiency |
  Glutaric acidemia type I |
 HMG-CoA lyase Deficiency |
 Isovaleric acidemia |
 3-Methylcrotonyl-CoA carboxylase deficiency |
 Methylmalonic acidemias |
 Propionic acidemia |
 Guanidinoacetate methyltransferase deficiency |
  Mucopolysaccharidosis type I |
 Farber disease |
  Galactosemia |
  Glycogen storage disease type 1 |
 Multiple carboxylase/biotinidase deficiency |
 Pyridoxine-dependent epilepsy |