ArticleMolecular genetics and metabolism reports2015
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia.Molecular genetics and metabolism · 2026Review
- Inhibiting pyruvate carboxylase as a potential therapeutic strategy for alleviating rheumatoid arthritis.Inflammopharmacology · 2026Article
- Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.International journal of molecular sciences · 2026Review
- Hypoxia-mediated repression of pyruvate carboxylase drives immunosuppression.Breast cancer research : BCR · 2024Article
- Different Immune Responses of Hemocytes fromBiology · 2024Article
- Mitochondrial bioenergetics, metabolism, and beyond in pancreatic β-cells and diabetes.Frontiers in molecular biosciences · 2024Review
- Hypoglycemia in Children: Major Endocrine-Metabolic Causes and Novel Therapeutic Perspectives.Nutrients · 2023Review
- Glaucoma-Associated CDR1 Peptide Promotes RGC Survival in Retinal Explants through Molecular Interaction with Acidic Leucine Rich Nuclear Phosphoprotein 32A (ANP32A).Biomolecules · 2023Article
- Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B.Frontiers in endocrinology · 2023Article
- Article
- A Unique Case of Pyruvate Carboxylase Deficiency.Cureus · 2021Article
- Validation of a Gas Chromatography-Mass Spectrometry Method for the Measurement of the Redox State Metabolic Ratios Lactate/Pyruvate and β-Hydroxybutyrate/Acetoacetate in Biological Samples.International journal of molecular sciences · 2021Article
- Case report of Takotsubo syndrome following seizures in a patient with pyruvate carboxylase deficiency.European heart journal. Case reports · 2021Article
- Targeting Pyruvate Carboxylase by a Small Molecule Suppresses Breast Cancer Progression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2020Article
- Hungry for your alanine: when liver depends on muscle proteolysis.The Journal of clinical investigation · 2019Article
- Pyruvate-Carboxylase-Mediated Anaplerosis Promotes Antioxidant Capacity by Sustaining TCA Cycle and Redox Metabolism in Liver.Cell metabolism · 2019Article
- Deep Learning/Artificial Intelligence and Blood-Based DNA Epigenomic Prediction of Cerebral Palsy.International journal of molecular sciences · 2019Article
- Metabolic Liver Diseases Presenting as Pediatric Onset Hypoglycemia: A Hepatologist's Primer.Journal of clinical and experimental hepatologyArticle
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency is a very rare metabolic disorder. We report on a new patient affected by the moderate form (the American type A). Diagnosis was nearly fortuitous, resulting from the revision of an initial diagnosis of mitochondrial complex IV (C IV) defect. The patient presented with severe lactic acidosis and pronounced ketonuria, associated with lethargy at age 23 months. Intellectual disability was noted at this time. Amino acids in plasma and organic acids in urine did not show patterns of interest for the diagnostic work-up. In skin fibroblasts PC showed no detectable activity whereas biotinidase activity was normal. We had previously reported another patient with the severe form of PC deficiency and we show that she also had secondary C IV deficiency in fibroblasts. Different anaplerotic treatments in vivo and in vitro were tested using fibroblasts of both patients with 2 different types of PC deficiency, type A (patient 1) and type B (patient 2). Neither clinical nor biological effects in vivo and in vitro were observed using citrate, aspartate, oxoglutarate and bezafibrate. In conclusion, this case report suggests that the moderate form of PC deficiency may be underdiagnosed and illustrates the challenges raised by energetic disorders in terms of diagnostic work-up and therapeutical strategy even in a moderate form.
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