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Mitochondrial propionyl-CoA carboxylase defect

MedGen UID:
871161
•Concept ID:
C4025634
•
Finding
Synonym: Mitochondrial PCC defect
 
HPO: HP:0003288

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial propionyl-CoA carboxylase defect

Professional guidelines

PubMed

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
Gallego-Villar L, Pérez-Cerdá C, Pérez B, Abia D, Ugarte M, Richard E, Desviat LR
J Inherit Metab Dis 2013 Sep;36(5):731-40. Epub 2012 Oct 3 doi: 10.1007/s10545-012-9545-3. PMID: 23053474
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M
Eur J Hum Genet 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. PMID: 10780784

Recent clinical studies

Etiology

Short report of an Iranian Prenatal Methamphetamine Exposure effect cohort showed DNA methylation alteration of mitochondria function associated genes.
Haghighatfard A, Salehi M, Saberi SM, Hashemi M
Res Dev Disabil 2022 Oct;129:104320. Epub 2022 Aug 2 doi: 10.1016/j.ridd.2022.104320. PMID: 35930865
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA
Mol Genet Metab 2006 Aug;88(4):327-33. Epub 2006 May 11 doi: 10.1016/j.ymgme.2006.03.009. PMID: 16697227
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Loyer M, Leclerc D, Gravel RA
Hum Mol Genet 1995 Jun;4(6):1035-9. doi: 10.1093/hmg/4.6.1035. PMID: 7655456
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
Ohura T, Kraus JP, Rosenberg LE
Am J Hum Genet 1989 Jul;45(1):33-40. PMID: 2741949Free PMC Article
Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.
Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA
J Clin Invest 1979 Dec;64(6):1695-702. doi: 10.1172/JCI109632. PMID: 115903Free PMC Article

Diagnosis

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR
Mol Genet Metab 2020 Jul;130(3):183-196. Epub 2020 May 11 doi: 10.1016/j.ymgme.2020.05.003. PMID: 32451238Free PMC Article
Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.
Choe JY, Jang KM, Min SY, Hwang SK, Kang B, Choe BH
J Korean Med Sci 2019 Dec 9;34(47):e303. doi: 10.3346/jkms.2019.34.e303. PMID: 31808324Free PMC Article
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S
Am J Hum Genet 2014 Mar 6;94(3):453-61. Epub 2014 Feb 13 doi: 10.1016/j.ajhg.2014.01.006. PMID: 24530203Free PMC Article
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Yano S, Li L, Le TP, Moseley K, Guedalia A, Lee J, Gonzalez I, Boles RG
J Inherit Metab Dis 2003;26(5):481-8. doi: 10.1023/a:1025125427868. PMID: 14518828
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
Bartlett K, Ng H, Leonard JV
Clin Chim Acta 1980 Jan 15;100(2):183-6. doi: 10.1016/0009-8981(80)90081-9. PMID: 6766095

Therapy

Short report of an Iranian Prenatal Methamphetamine Exposure effect cohort showed DNA methylation alteration of mitochondria function associated genes.
Haghighatfard A, Salehi M, Saberi SM, Hashemi M
Res Dev Disabil 2022 Oct;129:104320. Epub 2022 Aug 2 doi: 10.1016/j.ridd.2022.104320. PMID: 35930865
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R
Pediatr Res 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. PMID: 9128289
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
Bartlett K, Ng H, Leonard JV
Clin Chim Acta 1980 Jan 15;100(2):183-6. doi: 10.1016/0009-8981(80)90081-9. PMID: 6766095

Prognosis

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR
Mol Genet Metab 2018 Nov;125(3):266-275. Epub 2018 Sep 26 doi: 10.1016/j.ymgme.2018.09.008. PMID: 30274917
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R
Pediatr Res 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. PMID: 9128289
Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.
León-Del-Rio A, Leclerc D, Akerman B, Wakamatsu N, Gravel RA
Proc Natl Acad Sci U S A 1995 May 9;92(10):4626-30. doi: 10.1073/pnas.92.10.4626. PMID: 7753853Free PMC Article

Clinical prediction guides

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR
Mol Genet Metab 2020 Jul;130(3):183-196. Epub 2020 May 11 doi: 10.1016/j.ymgme.2020.05.003. PMID: 32451238Free PMC Article
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A, Navarrete R, García-Rodríguez R, Richard E, Ugarte M, Pérez-Cerda C, Pérez B, Gámez A, Desviat LR
Mol Genet Metab 2018 Nov;125(3):266-275. Epub 2018 Sep 26 doi: 10.1016/j.ymgme.2018.09.008. PMID: 30274917
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA
Hum Mutat 1999;14(4):275-82. doi: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N. PMID: 10502773
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
Ohura T, Kraus JP, Rosenberg LE
Am J Hum Genet 1989 Jul;45(1):33-40. PMID: 2741949Free 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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