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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.

 

 

 

 

 

 

 

 

 

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