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Disorder | Defective enzyme | Diagnostic metabolites |
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Propionic acidemia (PA) | Propionyl CoA carboxylase
| Propionylcarnitine (C3; P)* Methylcitrate (U)* 3-Hydroxypropionic acid (U) |
Methylmalonic acidemia (MMA) | Methylmalonic mutase Cobalamin A Cobalamin B | Methylmalonic acid (P, U) Propionylcarnitine (C3; P) Methylcitrate (U) 3-Hydroxypropionic acid |
Methylmalonic acidemia with homocysteinuria, cobalamin C/D | Cobalamin C Cobalamin D | Methylmalonic acid (P, U) Propionylcarnitine (C3; P) Methylcitrate (U) Total homocysteine (P) 3-Hydroxypropionic acid (U) |
Isovaleric acidemia (IVA) | Isovaleryl dehydrogenase | Isovaleric acid (U) Isovalerylcarnitine (C5; P) |
3-Methylcrotonylglycinuria (3MCC) | 3-Methylcrontonyl CoA carboxylase | 3-Hydroxyisovaleric acid (U) 3-Methylcrotonylglycine (U) Hydroxyisovalerylcarnitine (C5OH; P) |
3-Hydroxy-3-methylglutaryl CoA lyase deficiency | 3-Hydroxy-3-methyl- glutaryl CoA Lyase | Hydroxyisovalerylcarnitine (C5OH; P) 3-Hydroxy-3-methylglutaric acid (U) 3-Methylglutaconic acid (U) |
Malonic aciduria | Malonyl CoA decarboxylase | Malonate (U) |
2-Methyl-3-hydroxybutyrl CoA dehydrogenase deficiency | 2-Methyl-3-hydroxybutyryl CoA dehydrogenase | 2-Methyl-3-hydroxybutyrate (U) Tiglylglycine (U) |
Ethylmalonic encephalopathy | Branched chain Keto-dehydrogenase | C4 C5 Ethylmalonic acid (U) Methylsuccinic acid C4–C6 acylglycines (P) |
Beta-ketothiolase deficiency | 3-Methyl acetoacetate thiolase | C5:1 (P) 2-Methyl-3-hydroxybutyrate (U) Tiglylglycine (U) 2-Methyacetoacetate (U) |
Biotinidase deficiency and Holocarboxylase synthetase deficiency | Biotinidase Holocarboxylase synthetase | Propionylcarnitine (C3; P) Hydroxyisovalerylcarnitine (C5OH; P) Biotinidase enzyme deficiency (P) Lactate (P, U) 3-Methylcrotonylglycine (U) Methylcitrate (U) 3-Hydroxypropionic acid (U) |
2-Methyl butyryl CoA dehydrogenase | 2-Methyl butyryl CoA dehydrogenase | 2-Methylglycience (U) Isovalerylcarnitine (C5; P) |
Glutaric acidemia I | Glutaryl CoA dehydrogenase | Glutaric acid (U) 3-Hydroxyglutaric acid (U) Glutaryl carnitine (C5-DC; P) |
3-Methylglutaconic acidurias |
3-Methylglutaconyl CoA hydratase (Type I) Barth (Type II) Costeff (Type III) Type IV Type V | 3-Methylglutaconic acid (U) Hydroxy-isovalerylcarnitine (P) |
Canavan disease | Aspartoacylase | N-Acetylaspartic Acid (U) |
L-2-Hydroxyglutaric aciduria | L-2-Hydroxyglutarate dehydrogenase | L-2-Hydroxyglutaric Acid (U) Lysine (CSF) |
D-2-Hydroxyglutaric aciduria | D-2-Hydroxyglutarate dehydrogenase Hydroxy-oxoacid transhydrogenase | D-2-Hydroxyglutaric acid (U) |
4-Hydroxybutyric Aciduria | Succinate semialdehyde dehydrogenase | Gamma-hydroxybutric acid (U) |
Fumaric aciduria | Fumarate hydratase | Fumarate (U) |
Maple syrup urine disease (MSUD) | Branched chain Keto-dehydrogenase | Leucine (P) Alloisoleucine (P) Dicarboxylic acids (U) |
Dihydrolipoamide dehydrogenase | MSUD III | Leucine (P) Alloisoleucine (P) Dicarboxylic acids (U) Lactic acid (P, U) |
Phenylketonuria (PKU) | Phenylalanine hydratase (PAH) | Phenylalanine (P) Low tyrosine (P) |
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