- Propionic aciduria
- Holocarboxylase synthetase deficiency
- Methylmalonic aciduria (Cbl C and Cbl D)
- Methylmalonic Aciduria
- Methylmalonic aciduria (Cbl A and Cbl B)
- Malonic aciduria
- Isobutyryl-CoA dehydrogenase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
- Methylmalonic Semialdehyde Dehydrogenase Deficiency
- Beta-ketothiolase deficiency
- Isovaleric aciduria
- 3-Methylcrotonylglycinuria
- 3-Methylglutaconic aciduria (type I – hydratase deficiency)
- Barth Syndrome
- 3-hydroxy 3-methyl glutaric aciduria
- Glutaric aciduria type II(H-PHE)
- Glutaric aciduria type I
- Mevalonate kinase deficiency
- Glyceroluria
- Phenylketonuria (phenylalanine hydroxylase deficiency)
- Hyperphenylalaninuria (variant, benign)
- 2-Methyl 3-hydroxy butyric aciduria
- Tyrosinuria type I (hepatorenal tyrosinemia)
- Tyrosinuria type II (oculocutaneous tyrosinemia)
- Tyrosinuria type III (4-hydroxyphenylpyruvate dioxygenase def.)
- Transient Tyrosinuria of the newborn
- Tyrosinuria caused by a liver disease
- Maple syrup urine disease
- N-acetylglutamate synthase deficiency
- Carbamylphosphate synthetase deficiency
- Ornithine transcarbamylase deficiency
- Citrullinuria (argninosuccinate synthase deficiency)
- Citrullinuria type II (citrin deficiency)
- Argininosuccinic aciduria
- Argininuria
- Hypermethioninuria (MAT I/III deficiency)
- Homocystinuria cystathionine beta-synthase deficiency
- Alkaptonuria
- Tada syndrome
- Encephalopathy due to hydroxykynureninuria
- Valinuria
- Hyperleucine-isoleucinuria
- Dihydrolipoyl dehydrogenase(E3) deficiency
- Beta-hydroxyisobutyryl CoA deacylase deficiency
- Histidinuria
- Hartnup syndrome
- Lysinuric protein intolerance
- Alpha-ketoadipic aciduria
- Saccharopinuria
- Seizures-intellectual deficit due to hydroxylysinuria
- Cystathioninuria
- Hyperprolinuria type I
- Hyperprolinuria type II
- Hyper hyperprolinuria
- Hawkinsinuria
- Biotinidase deficiency
- Fumarate hydratase deficiency
- Hyperornithinuria-Hyperammonuria-Homocitrullinuria Syndrome
- 2-hydroxyglutaric aciduria
- Short-chain acyl-CoA dehydrogenase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency
- Medium/short-chain L-3-OH acyl-CoA DH deficiency
- Long-chain 3-OH acyl-CoA dehydrogenase deficiency
- Ethylmalonic encephalopathy
- Dicarboxylic aciduria
- Disorders of Purine, Pyrimidine Metabolism
- Lesch-Nyhan syndrome
- Kelley-Seegmiller syndrome
- Adenine phosphoribosyltransferase deficiency
- Hereditary xanthinuria
- Orotic aciduria
- Dihydropyrimidine dehydrogenase deficiency
- Dihydropyrimidinase deficiency
- Beta-ureidopropionase deficiency
- Hyperglycinuria
- Sarcosinuria
- Imidazole aminoaciduria
- Formiminoglutamic aciduria
- Carnosinuria
- Canavan disease
- Glutathione synthetase deficiency
- Gamma-glutamyl transpeptidase deficiency
- Succinic semialdehyde dehydrogenase deficiency
- Hyperpipecolaturia
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Beta-aminoisobutyric aciduria
- Classic galactosenuria
- Galactokinase deficiency
- Galactose epimerase deficiency
- Transient galactonuria
- D-glyceric aciduria
- Fructose-1, 6-Diphosphatase Deficiency
- Endogenous sucrosuria
- Lactose intolerance
- Zellweger syndrome
- Neonatal adrenoleukodystrophy
- Infantile Refsum disease
- Zellweger-like syndrome
- Primary Hyperoxaluria
- Pyruvate dehydrogenase e1-beta deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate carboxylase deficiency
- Pyruvate decarboxylase deficiency
- Leigh syndrome
- Cytochrome c oxidase deficiency
- De Toni-Debré-Fanconi syndrome