| H00073 | |
| H number | H00073 |
| Name | Pyruvate carboxylase deficiency |
| Description | Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate. |
| Category | Inherited metabolic disorder |
| Network | nt06031(H00073) Citrate cycle and pyruvate metabolism |
| Gene | PC [HSA:5091] [KO:K01958] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.03 ICD-10: E74.4 MeSH: D015324 OMIM: 266150 |
| Reference | PMID:18676167 AUTHORS Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC TITLE The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. JOURNAL Mol Genet Metab 95:31-8 (2008) DOI:10.1016/j.ymgme.2008.06.006 PMID:16156009 AUTHORS Pithukpakorn M TITLE Disorders of pyruvate metabolism and the tricarboxylic acid cycle. JOURNAL Mol Genet Metab 85:243-6 (2005) DOI:10.1016/j.ymgme.2005.06.006 PMID:12597053 AUTHORS De Meirleir L TITLE Defects of pyruvate metabolism and the Krebs cycle. JOURNAL J Child Neurol 17 Suppl 3:3S26-33; discussion 3S33-4 (2002) DOI:10.1177/088307380201703S01 PMID:9585612 AUTHORS Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH TITLE Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. JOURNAL Am J Hum Genet 62:1312-9 (1998) DOI:10.1086/301884 |