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Pyruvate carboxylase deficiency, benign type

MedGen UID:
1842785
•Concept ID:
C5679927
•
Disease or Syndrome
Synonyms: Pyruvate carboxylase deficiency type C; pyruvate carboxylase deficiency type C; pyruvate carboxylase deficiency, benign type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018143
Orphanet: ORPHA353320

Definition

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyruvate carboxylase deficiency, benign type

Professional guidelines

PubMed

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P
Hum Mutat 2019 Jun;40(6):816-827. Epub 2019 Apr 13 doi: 10.1002/humu.23742. PMID: 30870574

Recent clinical studies

Prognosis

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P
Hum Mutat 2019 Jun;40(6):816-827. Epub 2019 Apr 13 doi: 10.1002/humu.23742. PMID: 30870574
Pyruvate carboxylase deficiency: a benign variant with normal development.
Van Coster RN, Fernhoff PM, De Vivo DC
Pediatr Res 1991 Jul;30(1):1-4. doi: 10.1203/00006450-199107000-00001. PMID: 1909777

Clinical prediction guides

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P
Hum Mutat 2019 Jun;40(6):816-827. Epub 2019 Apr 13 doi: 10.1002/humu.23742. PMID: 30870574
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC
Mol Genet Metab 2008 Sep-Oct;95(1-2):31-8. Epub 2008 Aug 3 doi: 10.1016/j.ymgme.2008.06.006. PMID: 18676167Free PMC Article

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