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Disorder | Biochemical characteristics |
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Carnitine uptake defect (CUD) (Primary/systemic carnitine deficiency, carnitine transporter OCTN2 deficiency) | ↓ ↓↓ Carnitine (P) |
Carnitine palmitoyltransferase I deficiency (CPT 1A) | ↑ Ammonia (P) ↑ Liver enzymes (ALT, AST) |
Carnitine palmitoyltransferase II deficiency (CPT II) (i) lethal neonatal (ii) infantile (iii) myopathic | ↑ C12–C18 acylcarnitines (P) |
Carnitine-acylcarnitine translocase deficiency (CACT) | ↑ Ammonia (P) ↑ Liver enzymes (ALT, AST) ↑ Creatine kinase (P) ↑ Long chain acylcarnitines (P) ↓ Free carnitine (P) |
Mitochondrial trifunction protein deficiency (TFP) (i) Isolated long chain Acyl-CoA Dehydrogenase deficiency (LCHAD) | Hypoketotic hypoglycemia |
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) | Hypoglycemia (ketotic or nonketotic) |
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) | Hypoketotic hypoglycemia |
Medium chain 3-ketoacyl-CoA thiolase deficiency (MCKAT) | Ketotic lactic aciduria C6–C12 dicarboxylic aciduria |
Short chain acyl-CoA dehydrogenase deficiency (SCAD) | ↑ Ethylmalonic acid (U) |
Medium/short chain acyl-CoA dehydrogenase deficiency (M/SCHAD) | Hyperinsulinemic hypoglycemia ↑ 3-Hydroxybutylcarnitine ↑ 3-Hydroxy butyric acid (U) ↑ 3-Hydroxy glutaric acid (U) |
Glutaric acidemia Type II | Hypoglycemia Metabolic acidosis |
2,4-Dienoyl-CoA reductase deficiency | 2-Trans,4-Cis-decadienoylcarnitine (P, U) |
Acyl-CoA dehydrogenase 9 deficiency (ACAD9) | Persistent lactic acidosis |
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