ArticleAmerican journal of human genetics2000
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.Orphanet journal of rare diseases · 2019Pooled it
- Article
- Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.Journal of innate immunity · 2026Review
- Article
- Prevalence of propionic acidemia in China.Orphanet journal of rare diseases · 2023Review
- Anesthetic Management of Children With Propionic Acidemia Undergoing Esophagogastroduodenoscopy.Cureus · 2021Article
- The presence of 3-hydroxypropionate and 1,3-propanediol suggests an alternative path for conversion of glycerol to Acetyl-CoA.Metabolism open · 2021Article
- A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.BMC medical genetics · 2020Article
- Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.Molecular genetics and metabolism · 2020Article
- Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.The Journal of clinical investigation · 2020Article
- Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.Science advances · 2020Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.Frontiers in pediatrics · 2018Article
- Methylmalonic and propionic acidemias: clinical management update.Current opinion in pediatrics · 2016Review
- Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.Molecular genetics and metabolism · 2016Article
- A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.Human genome variation · 2015Article
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.Orphanet journal of rare diseases · 2014Review
- Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.Human gene therapy · 2014Article
- Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.Journal of assisted reproduction and genetics · 2011Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Propionyl CoA carboxylase (PCC) is a mitochondrial, biotin-dependent enzyme involved in the catabolism of amino acids, odd-chain fatty acids, and other metabolites. PCC consists of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. Inherited PCC deficiency due to mutations in either gene results in propionic acidemia (PA), an autosomal recessive disease. Surprisingly, PA is highly prevalent among Inuits in Greenland. We have analyzed reverse transcriptase-PCR products of the beta-subunit mRNA, to characterize the responsible mutation(s). A 3-bp insertion, 1540insCCC, was found in homozygous form in three patients and in compound heterozygous form in one patient. The resulting PCC has no measurable activity, and the mutant beta-subunit appears to be very unstable. To test the hypothesis that a common mutation is responsible for PA in the Greenlandic Inuit population, 310 anonymous DNA samples of Inuit origin were screened for 1540insCCC. We found a carrier frequency of 5%, which is very high compared with those of most other autosomal recessive diseases. Analysis of alleles of a very closely linked marker, D3S2453, revealed a high degree of linkage disequilibrium between one specific allele and 1540insCCC, suggesting that this mutation may be a founder mutation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.