2024年12月25日 · PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1) is a Protein Coding gene. Diseases associated with PDHA1 include Pyruvate Dehydrogenase E1-Alpha Deficiency and Sudden Infant Death Syndrome. Among its related pathways are Regulation of pyruvate metabolism and glycolysis (BioCyc).

2021年6月17日 · Primary pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation that mostly affects the brain and leads to decreased ATP production and energy deficit.

The PDHA1 gene provides instructions for making a protein called E1 alpha. The E1 alpha protein is a piece (a subunit) of a larger protein: two E1 alpha proteins combine with two copies of another protein called E1 beta (produced from the PDHB gene) to form the E1 enzyme.

The most common form of PDC deficiency is caused by genetic changes (genetic changes or pathogenic variants) in the PDHA1 gene. These pathogenic variants are inherited in an X-linked manner. Pathogenic variants in other genes including PDHB, DLAT, PDHX, DLD, and PDP1 can also cause PDC deficiency.

2021年6月14日 · PDCD is most commonly caused by abnormalities in the gene that encodes the E1 alpha subunit, E1-alpha subunit pyruvate dehydrogenase gene or PDHA1. There are many different abnormalities in the PDHA1 gene, also called PDHA1 variants, which are known to …

PDHA1 (P = 0.025) was an independent predictor of overall survival in gastric cancer PDHc E1 mutation i9s associated with Pyruvate dehydrogenase complex deficiency. Case demonstrates fetal akinesia deformation sequence due to a de novo hemizygous c.498C > T splice-site mutation in the pyruvate dehydrogenase-alpha 1 (PDHA1) gene.

Mutations in the gene that provides instructions for making E1 alpha, the PDHA1 gene, are the most common cause of pyruvate dehydrogenase deficiency, accounting for approximately 80 percent of cases. These mutations lead to a shortage of E1 alpha protein or result in an abnormal protein that cannot function properly.

2025年1月4日 · Clinical resource with information about PDHA1, Pyruvate dehydrogenase E1-alpha deficiency, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

HGNC Approved Gene Symbol: PDHA1. The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA.

2025年3月17日 · Mutations in genes encoding E1 subunits, such as PDHA1, are linked to metabolic disorders, including pyruvate dehydrogenase deficiency, which can cause lactic acidosis. Structural studies reveal that TPP’s positioning within the active site is finely tuned for efficient catalysis.