Clinical diversity of pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

Clinical features , magnetic resonance , and biochemical studies are reported in 7 children with pyruvate dehydrogenase (PDH ) deficiency . These findings confirm the diverse clinical presentation of this condition , although neurological abnormalities are consistent features . Imaging results are also varied . Six of the children were investigated with proton magnetic resonance spectroscopy and lactate was demonstrated in brain in all patients . Regional variation in the lactate signal was observed in those patients in whom 2 regions were examined . Advances in molecular genetics have provided some explanations for the clinical variation in pyruvate dehydrogenase deficiency .