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Pyruvate carboxylase deficiency, infantile form

MedGen UID:
1842180
•Concept ID:
C5679928
•
Disease or Syndrome
Synonyms: Pyruvate carboxylase deficiency type A; pyruvate carboxylase deficiency type A; pyruvate carboxylase deficiency, infantile form; pyruvate carboxylase deficiency, infantile type; Pyruvate carboxylase deficiency, infantile 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:0018141
Orphanet: ORPHA353308

Definition

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyruvate carboxylase deficiency, infantile form

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

Diagnosis

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Almomen M, Sinclair G, Stockler-Ipsiroglu SG, Horvath GA
Neuropediatrics 2018 Dec;49(6):369-372. Epub 2018 Jul 25 doi: 10.1055/s-0038-1667171. PMID: 30045381
Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.
Ortez C, Jou C, Cortès-Saladelafont E, Moreno J, Pérez A, Ormazábal A, Pérez-Cerdá C, Pérez B, Artuch R, Cusi V, García-Cazorla A
Gene 2013 Dec 15;532(2):302-6. Epub 2013 Aug 23 doi: 10.1016/j.gene.2013.08.036. PMID: 23973720
Disorders of pyruvate metabolism.
De Meirleir L
Handb Clin Neurol 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. PMID: 23622387
Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.
Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M
Am J Med Genet 1999 May 21;84(2):94-101. PMID: 10323732

Therapy

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Burri BJ, Sweetman L, Nyhan WL
J Clin Invest 1981 Dec;68(6):1491-5. doi: 10.1172/jci110402. PMID: 6798072Free PMC Article

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
Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.
Ortez C, Jou C, Cortès-Saladelafont E, Moreno J, Pérez A, Ormazábal A, Pérez-Cerdá C, Pérez B, Artuch R, Cusi V, García-Cazorla A
Gene 2013 Dec 15;532(2):302-6. Epub 2013 Aug 23 doi: 10.1016/j.gene.2013.08.036. PMID: 23973720

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
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C
Am J Hum Genet 1984 Jan;36(1):80-92. PMID: 6141728Free PMC Article

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