KEGG   DISEASE: Pyruvate carboxylase deficiency
Entry
H00073                      Disease                                
Name
Pyruvate carboxylase deficiency
  Supergrp
Secondary hyperammonemia [DS:H01400]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H00073  Pyruvate carboxylase deficiency
Pathway-based classification of diseases [BR:br08402]
 Carbohydrate metabolism
  nt06031  Citrate cycle and pyruvate metabolism
   H00073  Pyruvate carboxylase deficiency
Pathway
hsa00620  Pyruvate metabolism
hsa00020  Citrate cycle (TCA cycle)
Network
nt06031 Citrate cycle and pyruvate metabolism
Gene
PC [HSA:5091] [KO:K01958]
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
Reference
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
Reference
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
Reference
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
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