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Table 1 Eligible IMD (12 of these 31 diseases were represented in this interview study, shown in italics, with multiple interviews for some diseases)

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