List of 130 metabolic diseases targeted by Japan Clinical Metabolomics Institute
Accuracy of each disease or condition (%)
Accuracy：high Accuracy：low 【more detailed explanation↓】
| A. Disorders in branched-chain amino acid metabolism | ||
|---|---|---|
| 1. | hypervalinemia 99% | |
| 2. | hyper leucine isoleusinemia 99% | |
| 3. | maple syrup urine disease99% | |
| 4. | dihydrolipoyl dehydrogenase deficiency 95～99% | |
| 5. | isovaleric acidemia 99% | |
| 6. | α-methylbutyryl-CoA dehydrogenase deficiency | |
| 7. | multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) 90～99% | |
| 8. | isobutyryl-CoA dehydrogenase deficiency | |
| 9. | β-methylcrotonylglycinuria 99% | |
| 10. | α-methyl-β-hydroxybutyryl-CoA dehydrogenase deficiency | |
| 11. | multiple carboxylase deficiency 99% | |
| 11-1. | MCD due to HCSD 99% | |
| 11-2. | MCD due to biotinidase deficiency 99% | |
| 12. | β-methylglutaconic aciduria type I (β-methylglutaconyl-CoA hydratase deficiency) 99% | |
| 13. | β-hydroxy-β-methylglutaric aciduria 99% | |
| 14. | β-ketothiolase deficiency 99% | |
| 15. | β-hydroxyisobutyryl-CoA deacylase deficiency | |
| 16. | β-hydroxyisobutyrate dehydrogenase deficiency | |
| 17. | methylmalonic semialdehyde dehydrogenase deficiency | |
| 18. | propionic acidemia 99% | |
| 19. | methylmalonic acidemia 99% | |
| 19-1. | methylmalonic acidemia (mutase) 99% | |
| 19-2. | methylmalonic acidemia (isomerase) 70～90% | |
| 19-3. | B12-responsive methylmalonic acidemia 95～99% | |
| 20. | mevalonate kinase deficiency (Caution! Please send the urine taken when the patient has a fever) 98～99% | |
| B. Disorders in phenylalanine metabolism | ||
| 1. | phenylketonuria 99% | |
| 2. | hyperphenylalaninemia 95～99% | |
| 3. | defects in the synthesis of BH4 50～90% | |
| 4. | defects in the recycling of BH4 50～90% | |
| 5. | neonatal transient hyperphenylalaninemia 70～90% | |
| 6. | secondary mild phenylketonuria due to total parenteral nutrition 90～99% | |
| 7. | secondary mild phenylketonuria due to methotrexate | |
| C. Disorders in tyrosine metabolism | ||
| 1. | tyrosinemia type I 98% | |
| 2. | tyrosinemia type II 98% | |
| 3. | tyrosinemia type III 98% | |
| 4. | aromatic amino acid decarboxylase deficiency 99% | |
| 5. | Hawkinsinuria | |
| 6. | alcaptonuria 99% | |
| 7. | neonatal transient tyrosinemia 90～99% | |
| 8. | secondary tyrosinemia 90～99% | |
| 8-1. | secondary tyrosinemia due to other drugs 90～99% | |
| 8-2. | secondary tyrosinemia due to other inborn errors of metabolism 90～99% | |
| D. Primary hyperammonemias and citrin deficiency | ||
| 1. | carbamoylphosphate synthetase deficiency 97～99% | |
| 2. | N-acetylglutamate synthetase deficiency | |
| 3. | ornithine transcarbamylase deficiency 98～99% | |
| 4. | citrullinemia 99% | |
| 5. | argininosuccinic aciduria 97% | |
| 6. | hyperargininemia 97% | |
| 7. | lysinuric protein intolerance 99% | |
| 8. | hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome 99% | |
| 9. | citrin deficiency 90～99% | |
| 10. | transient neonatal hyperammonemia 70～90% | |
| 11. | hyperammonemia due to other origin 70～90% | |
| E. Transport and other disorders | ||
| 1. | cystinuria 99% | |
| 2. | Hartnup disease 99% | |
| 3. | dibasic amino aciduria 95～99% | |
| 4. | iminoglycinuria 99% | |
| 5. | secondary iminoglycinuria 95～99% | |
| 6. | transient neonatal iminoglycinuria 70～90% | |
| 7. | Fanconi syndrome 95～99% | |
| 8. | hereditary renal hypouricemia | Can exclude Fanconi Syndrome E7 and Xanthinuria M2 |
| 9. | hypophosphatasia | |
| F. Metabolic disorders of Lys，Trp and Orn | ||
| 1. | glutaric aciduria type I 98～99% | |
| 2. | hyperlysinemia，α-aminoadipic semialdehyde synthase (AASS) deficiency 99% | |
| 2-1. | hyperlysinemia type I，Lysine-ketoglutarate reductase (LKR) deficiency 99% | |
| 2-2. | hyperlysinemia type II，Saccharopinuria, Saccharopine dehydrogenase (SDH) deficiency 99% | |
| 3. | pipecolic acidemia 95～99% | |
| 4. | α-aminoadipic aciduria | |
| 5. | tryptophanuria 90～99% | |
| 6. | xanthurenic aciduria (kynureninase deficiency) 95～99% | |
| 7. | xanthurenic aciduria due to B6 deficiency 90～99% | |
| 8. | α-aminoadipic α-ketoadipic aciduria 99% | |
| 9. | hydroxylysinuria | |
| 10. | hyperornithinemia 90～99% | |
| G. Metabolic disorders of sulfur-containing amino acid，folate & cbl | ||
| 1. | homocystinuria 99% | |
| 1-1. | homocystinuria type I (cystathionine β- synthase (CBS) deficiency) 99% | |
| 1-2. | homocystinuria type II，5-methyltetrahydrofolate-homocysteine methyltransferase (methionine synthase) deficiency 98～99% | |
| 1-3. | homocystinuria type III (5,10-methylenetetrahydrofolate reductase deficiency) 98～99% | |
| 2. | γ-cystathionase deficiency (cystathionuria) 98～99% | |
| 3. | hypermethioninemia 95～99% | |
| 4. | hereditary folate malabsorption 90～99% | |
| H. Metabolic disorders of Pro，Gly，His，β- alanine and others | ||
| 1. | hyperprolinemia type I 99% | |
| 2. | hyperprolinemia type II 99% | |
| 3. | hyperglycinemia 90～99% | |
| 4. | secondary hyperglycinemia 70～90% | |
| 5. | sarcosinemia 90～99% | |
| 6. | hyper β-alaninemia 95～99% | |
| 7. | malonyl-CoA decarboxylase deficiency | |
| 8. | hyperhistisinemia 99% | |
| 9. | urocanic aciduria | |
| 10. | primary hyperoxaluria type I，alanine: glyoxylate aminotransferase (AGT) deficiency 99% | |
| 11. | primary hyperoxaluria type II，D-glycerate dehydrogenase/glyoxylate reduetase deficiency 99% | |
| Hn | primary hyperoxaluria type III, 4-hydroxy-2-oxoglutarate aldolase (HOGA1) deficiency | |
| 12. | D-glycerate kinase deficiency 98～99% | |
| 13. | succinic semialdehyde dehydrogenase deficiency，4-hydroxybutyric aciduria 90～99% | |
| 14. | glycerol kinase deficiency 95～99% | |
| 15. | Canavan disease 99% | |
| 16. | 5-oxoprolinuria due to glutathione synthetase deficeincy 98～99% | |
| 17. | 5-oxoprolinuria due to 5-oxoprolinase deficiency 95～99% | |
| 18. | prolidase deficiency 95～99% | |
| I. Disorders in carbohydrate metabolism | ||
| 1. | galactosemia 98～99% | |
| 1-1. | galactosemia type I 98～99% | |
| 1-2. | galactosemia type II 98～99% | |
| 1-3. | galactosemia type III 98～99% | |
| 2. | fructose intolerance 95～99% | |
| 3. | renal glucosuria 98% | |
| 4. | diabetes mellitus 98% | |
| J. Gluconeogenesis disorders | ||
| 1. | glucose-6-phosphatase deficiency 50～99% | |
| 2. | fructose-1,6-diphosphatase deficiency 50～99% | |
| 3. | pyruvate carboxylase deficiency 50～90% | |
| K. Lactic acidemia / lactic aciduria | ||
| 1. | lactic aciduria (lactic acidemia) 70～99% | |
| 2. | α-ketoglutaric aciduria 95～99% | |
| 3. | fumaric aciduria 98～99% | |
| 4. | pyruvate dehydrogenase deficiency 90～99% | |
| 5. | thiamine-responsive pyruvate dehydrogenase deficiency 50～90% | |
| 6. | defect in electron transport system 50～90% | |
| 7. | dihydrolipoyl dehydrogenase deficiency [ A.-4.] 90～99% | |
| L. Neuroblastoma and Zellwerger syndrome | ||
| 1. | neuroblastoma 95～99% | |
| 2. | Zellwerger syndrome 90～99% | |
| M. Disorders in purine and pyrimidine metabolism | ||
| 1. | molybdenum cofactor deficiency 95～99% | |
| 2. | xanthine oxydase deficiency，xanthinuria 99% | |
| 3. | dihydropyrimidine dehydrogenase deficiency 99% | |
| 4. | dihydropyrimidine hydrolase deficiency 99% | |
| 5. | β-ureidopropionase deficeincy 99% | |
| 6. | Lesch Nyhan syndrome 98～99% | |
| 7. | hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency 95～99% | |
| 8. | adenine phosphoribosyltransferase (APRT) deficiency (2,8-dihydroxyadenine lithiasis) 99% | |
| 9. | orotic aciduria 98～99% | |
| N. Disorders in ketone and fatty acid metabolism | ||
| 1. | long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (trifunctional protein deficiency) 70～99% | |
| 2. | medium chain acyl-CoA dehydrogenase deficiency 70～99% | |
| 3. | multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) 70～99% | |
| 4. | medium chain β-ketothiolase deficiency 70～99% | |
| 5. | short chain acyl-CoA dehydrogenase deficiency 70～99% | |
| 6. | medium- / short- chain 3-hydroxyacyl-CoA dehydrogenase deficiency 70～99% | |
| 7. | ketonuria 70～99% | |
| 8. | ketotic dicarboxylic aciduria 70～99% | |
| 9. | hypoketotic dicarboxylic aciduria 70～99% | |
| 10. | nonketotic dicarboxylic aciduria 70～99% | |
| 11. | 3-hydroxydicarboxylic aciduria 70～99% | |
| 12. | MCT-milk related dicarboxylic aciduria 70～99% | |
| O. Deficiency of vitamine and cofactor | ||
| 1. | molybdenum deficiency 90～99% | |
| 2. | biotin deficiency 95～99% | |
| 3. | folate deficiency 90～99% | |
| 4. | B12 deficiency 90～99% | |
| P. β-Methylglutaconic aciduria and hypocitraturia | ||
| 1. | β-methylglutaconic aciduria (βMGA-uria) 70～99% | |
| 1-1. | βMGA-uria type I (β-methylglutaconyl-CoA hydratase deficiency) [ A.-12.] 99% | |
| 1-2. | βMGA-uria type II (Barth syndrome) 70～90% | |
| 1-3. | βMGA-uria type III (Costeff syndrome) 70～90% | |
| 1-4. | βMGA-uria type IV (Mitochondrial ( + / －DNA) abnormalities) 70～90% | |
| 1-5. | βMGA-uria type V (mitochondrial protein import dysfunction) 70～90% | |
| 2. | hypocitraturia | |
| 1. | Accuracy of chemical diagnosis is very high and independent on sampling time: 98～99%、99% | |
| 2. | 95～99% | |
| 3. | 90～99% | |
| 4. | Accuracy of chemical diagnosis is not always high: 70～90%、70～99% | |
| 5. | 50～90%、50～99% | |
| 6. | Accuracy of chemical diagnosis is highly dependent on sampling time such as fatty acid oxidation disorders: A.-7、N.-1～12. 70～90%、70～99% | |
| 7. | Accuracy of chemical diagnosis is highly dependent on sampling time such as gluconeogenesis disorders (critical sample): J.-1～3. 50～90%、50～99% | |
| 8. | Diseases without %：have not experienced but critical biomarkers are targeted and means and SD for age-matched control are set to get z-scores automatically. | |