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. | |