Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Human | GFM1 | 85476 | G elongation factor, mitochondrial 1 | Metabolic acidosis, severe |
Human | MRPS22 | 56945 | mitochondrial ribosomal protein S22 | Metabolic acidosis, severe |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | Metabolic acidosis, episodic |
Human | PNPO | 55163 | pyridoxamine 5'-phosphate oxidase | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | MLYCD | 23417 | malonyl-CoA decarboxylase | |
Human | KYNU | 8942 | kynureninase | Renal or metabolic acidosis |
Human | PDHX | 8050 | pyruvate dehydrogenase complex, component X | |
Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | |
Human | SLC5A1 | 6523 | solute carrier family 5 (sodium/glucose cotransporter), member 1 | |
Human | RYR1 | 6261 | ryanodine receptor 1 (skeletal) | Mixed respiratory and metabolic acidosis |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | IVD | 3712 | isovaleryl-CoA dehydrogenase | |
Human | HPD | 3242 | 4-hydroxyphenylpyruvate dioxygenase | Metabolic acidosis (transient, resolves in infancy) |
Human | HLCS | 3141 | holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) | |
Human | HSD17B10 | 3028 | hydroxysteroid (17-beta) dehydrogenase 10 | |
Human | GSS | 2937 | glutathione synthetase | Chronic metabolic acidosis |
Human | GK | 2710 | glycerol kinase | |
Human | GCDH | 2639 | glutaryl-CoA dehydrogenase | |
Human | SLC37A4 | 2542 | solute carrier family 37 (glucose-6-phosphate transporter), member 4 | |
Human | FBP1 | 2203 | fructose-1,6-bisphosphatase 1 | |