Rs3810710

A (G) form of this SNP, located in exon 9 of the PDHA1 gene, has been observed in patients with pyruvate dehydrogenase E1 alpha deficiency. Deficiences in the PDHA gene may lead, to varying degrees, to lactic acidosis and/or neurological problems. [OMIM 312170, OMIM 300502]

The traditional treatment for pyruvate deficiencies is a ketogenic diet, a type of diet very high in fat while low in carbohydrates. Medical supervision is considered essential.


 * is_associated_with_disease::Lactic acidosis