X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6349
Abstract: We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initially… read more here.
Keywords: structural brain; pyruvate dehydrogenase; pdha1 variant; brain abnormalities ... See more keywords