ReviewJournal of inherited metabolic disease1996
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Review in Journal of inherited metabolic disease, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 68 citations in OpenAlex.
- Model Informed Dose Optimization of Dichloroacetate for the Treatment of Congenital Lactic Acidosis in Children.Journal of clinical pharmacology · 2018Trial
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.Annals of clinical and translational neurology · 2026Article
- Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.Journal of inherited metabolic disease · 2022Article
- Article
- Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.Molecular genetics and metabolism reports · 2020Article
- Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts.Metabolomics : Official journal of the Metabolomic Society · 2019Article
- Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.Scientifica · 2016Review
- Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain.Neurochemistry international · 2012Article
- Review
- Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.PloS one · 2012Article
- Inborn errors of metabolism and motor disturbances in children.Journal of inherited metabolic disease · 2009Review
- Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.The Biochemical journal · 2003Article
- Structure, function and regulation of pyruvate carboxylase.The Biochemical journal · 1999Review
- X chromosome evidence for ancient human histories.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.Journal of inherited metabolic disease · 1996Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X-linked E1 alpha gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate-sensitive ataxia, can be different in males and females depending on the nature of the mutation and, in the case of females, on the X-inactivation pattern in different tissues. Males have a high representation of missense mutations among the patient cohort, while females are much more likely to have DNA rearrangements, particularly toward the 3' end of the coding sequence of the gene. Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the enzyme and the patient's clinical symptoms. Pyruvate carboxylase deficiency, on the other hand, is a true autosomal recessive disease, though it has high occurrences in particular ethnic groups, especially in Algonkian-speaking Amerindians and in Arabs. In the former group the defect is a simple type in which material cross-reactive to pyruvate carboxylase antibody is present in cultured cells (CRM+ve). In the latter group, cross-reacting material is rarely present (CRM-ve). The CRM+ve patients can survive into teenage years with careful supervision, while the CRM-ve patients have complications due to hyperammonaemia and dysfunction of the urea cycle and rarely survive beyond 3 months of life.
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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.