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A variety of pathogenic variants are responsible for the deficiency in Pyruvate dehydrogenase deficiency, including the most common in the PDHA1 gene. The PDHA1 gene code codes for one of the PDH enzyme subunits present in a carbohydrate metabolism pathway involved in energy production. PDH deficiency treatment is critical, as carbohydrate is needed in a healthy diet and rice is the staple food for a large population of Asia's shopper. This review looked at the effectiveness of dichloroacetate and phenylbutyrate as potential treatments for PDH deficiency caused by PDHA1 pathogenic variants. Dichloroacetate, a common symptom of PDH deficiency, will have an effect on most PDHA1 pathogenic variants, and may act as a temporary cure to reduce the lactic acidosis, a common symptom of PDH deficiency. Phenylbutyrate can only be used on patients with specific pathogenic variants of the PDH protein.
Source link: https://doi.org/10.3389/bjbs.2022.10382
"PDH deficiency drugs are generally ineffective and are started postnatally. " No optokinetic response a, in a behavioral genetic screen aimed at detecting zebrafish with visual function deficits, we previously isolated two alleles of the recessive lethal mutant with no optokinetic response a Here we learn that no one in the PDH E2 subunit is missing dihydrolipoamide S-acetyltransferase, and has phenotypes similar to human patients with PDH deficiency. "Our research shows an effective treatment for PDH deficiency and other congenital disorders that influence early embryonic development. ".
Source link: https://doi.org/10.1073/pnas.0307074101
"Deficiency of pyruvate dehydrogenase [pyruvate:lipoamide 2-oxidoreductase], the first component of the pyruvate dehydrogenase complex, is associated with lactic acidosis and central nervous system dysfunction. We characterized pyruvate deficiency in 11 patients using both specific antibodies to pyruvate dehydrogenase and cDNA coding for its two alpha and beta subunits. Patients had no detectable crossreactive protein for either the alpha or beta subunit, but normal mRNA for both alpha and beta subunits were found. The remaining two patients had no detectable crossreactive protein, but they did have reduced amounts of mRNA for the alpha subunit of pyruvate dehydrogenase. These findings show that loss of pyruvate dehydrogenase activity may be due to either absent or catalytically inactive proteins, and in those cases in which this enzyme is absent, mRNA for one of the subunits may also be missing. ".
Source link: https://doi.org/10.1073/pnas.85.19.7336
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