In utero central nervous system damage in pyruvate dehydrogenase deficiency.
Pyruvate dehydrogenase deficiency is among the most common causes of congenital lactic acidosis. We describe siblings with congenital lactic acidosis due to a deficiency of pyruvate dehydrogenase complex. The findings of computed tomography and pathologic studies suggest that central nervous system damage had occurred in utero. These observations have implications for treatment and outcome in patients with enzymatic defects causing congenital lactic acidosis.
D001921:Brain / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005333:Fetus / Q000033:anatomy & histology; D006801:Humans; D007231:Infant, Newborn; D007655:Ketoglutarate Dehydrogenase Complex / Q000378:metabolism; D008297:Male; D011247:Pregnancy; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D014057:Tomography, X-Ray Computed
D011768:Pyruvate Dehydrogenase Complex; D007655:Ketoglutarate Dehydrogenase Complex