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Pyruvate carboxylase deficiency, severe neonatal type

MedGen UID:
1842956
•Concept ID:
C5679929
•
Disease or Syndrome
Synonyms: Pyruvate carboxylase deficiency type B; pyruvate carboxylase deficiency type B; pyruvate carboxylase deficiency, severe neonatal 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:0018142
Orphanet: ORPHA353314

Definition

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. [from ORDO]

Term Hierarchy

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

Recent clinical studies

Etiology

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM
Ann Neurol 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. PMID: 16278852
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M
J Inherit Metab Dis 1996;19(4):452-62. doi: 10.1007/BF01799106. PMID: 8884569
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385

Diagnosis

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, Zeinali S
Iran Biomed J 2023 Sep 1;27(5):307-19. Epub 2023 Jun 19 doi: 10.61186/ibj.27.5.307. PMID: 37873728Free PMC Article
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
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: metabolic characteristics and new neurological aspects.
García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM
Ann Neurol 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. PMID: 16278852
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M
J Inherit Metab Dis 1996;19(4):452-62. doi: 10.1007/BF01799106. PMID: 8884569

Therapy

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM
Mol Genet Metab 2005 Apr;84(4):305-12. doi: 10.1016/j.ymgme.2004.09.007. PMID: 15781190
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M
J Inherit Metab Dis 1996;19(4):452-62. doi: 10.1007/BF01799106. PMID: 8884569
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385

Prognosis

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, Zeinali S
Iran Biomed J 2023 Sep 1;27(5):307-19. Epub 2023 Jun 19 doi: 10.61186/ibj.27.5.307. PMID: 37873728Free PMC Article
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
Carbone MA, Applegarth DA, Robinson BH
Hum Mutat 2002 Jul;20(1):48-56. doi: 10.1002/humu.10093. PMID: 12112657
An atypical French form of pyruvate carboxylase deficiency.
Pineda M, Campistol J, Vilaseca MA, Briones P, Ribes A, Temudo T, Pons M, Cusi V, Rolland MO
Brain Dev 1995 Jul-Aug;17(4):276-9. doi: 10.1016/0387-7604(95)00057-i. PMID: 7503391
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

In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, Zeinali S
Iran Biomed J 2023 Sep 1;27(5):307-19. Epub 2023 Jun 19 doi: 10.61186/ibj.27.5.307. PMID: 37873728Free PMC Article
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM
Ann Neurol 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. PMID: 16278852
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM
Mol Genet Metab 2005 Apr;84(4):305-12. doi: 10.1016/j.ymgme.2004.09.007. PMID: 15781190
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
Carbone MA, Applegarth DA, Robinson BH
Hum Mutat 2002 Jul;20(1):48-56. doi: 10.1002/humu.10093. PMID: 12112657
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M
Brain Dev 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. PMID: 7726385

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