Table 1.
The list of inherited metabolic disorders in machine learning system model.
| Abbreviations | IMDs (OMIM code) | Gene |
|---|---|---|
| PAHD | Phenylalanine hydroxylase deficiency (#261,600) | PAH |
| B4HD | Tetrahydrobiopterin deficiency (#261,600) | PTS,GCH1,QDPR, PCBD1 |
| PCD | Primary carnitine deficiency (#212,140) | SLC22A5 |
| MMA | Methylmalonic acidemia (#251,000, #251,100,#251,110,#613, 646, and #614, 265) | MUT,MMAA,MMAB, |
| MMA-HCY | Methylmalonic aciduria combined with homocystinuria (#277,400, #277,410, #277,380, #309,541 and #614, 857) | MMACHC,MMADHC, LMBRD1, ABCD4, |
| PA | Propionic acidemia (#606,054) | PCCA, PCCB |
| SCADD | Short-chain acyl-CoA dehydrogenase deficiency (#201,470) | ACADS |
| IBDD | Isobutyryl-CoA dehydrogenase deficiency (#611,283) | ACAD8 |
| 3-MCCD | 3-methylcrotonyl-CoA carboxylase deficiency (#210,200 and #210,210) | MCCC1, MCCC2 |
| 3-HMGD | 3-hydroxy-3-methylglutaryl CoA lyase deficiency (#246,450) | HMGCL |
| BKD | β-ketothiolase deficiency (#203,750) | ACAT1 |
| HCSD | Holocarboxylase synthetase deficiency (#253, 270) | HLCS |
| NICCD | Neonatal intrahepatic cholestasis citrin deficiency (#605,814) | SLC25A13 |
| CIT-I | Citrullinemia type I (#215,700) | ASS1 |
| ASA | Argininosuccinic aciduria (#207,900) | ASL |
| HMET | Hypermethioninemia (#250,850) | MAT1A |
| HCY | Homocystinuria (#236,200) | CBS, CTH, MTHFR |
| GA-I | Glutaric acidemia I (#231,670) | GCDH |
| IVA | Isovaleric acidemia (#243,500) | IVD |
| 2-MBDD | 2-methylbutyryl-CoA dehydrogenase deficiency (#610,006) | ACADSB |
| MCADD | Medium-chain acyl-CoA dehydrogenase deficiency (#201,450) | ACADM |
| VLCADD | Very-long-chain acyl-CoA dehydrogenase deficiency (#201,475) | ACADVL |
| GA-II | Glutaric acidemia II (# 231,680) | ETFA, ETFB, ETFDH |
| MSUD | Maple syrup urine disease (#248,600) | BCKDHA, BCKDHB, DBT |
| CPT-I | Carnitine palmitoyltransferase I deficiency (#255,120) | CPT1A |
| HPRO | Hyperprolinuria (#239,500) | PRODH |
| HTYR | Tyrosinemia type I (# 276,700) | FAH |
| OTCD | Ornithine transcarbamylase deficiency (#311,250) | OTC |
| CPSD | Carbamoyl phosphate synthetase deficiency (# 237,300) | CPS1 |
| GCE | Glycine Encephalopathy (# 605,899) | AMT, GCSH, GLDC |
| HARG | Argininemia (# 207,800) | ARG1 |
IMDs, inherited metabolic diseases; OMIM, online Mendelian inheritance in man.