A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.

[pyruvate dehydrogenase deficiency]

We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E 3 -binding protein deficiency in a newborn girl . She had a severe encephalopathy , and magnetic resonance imaging of the brain showed large subependymal cysts and no basal ganglia lesions . She died 35 days after birth . We detected a novel homozygous deletion (620 delC ) in the PDX 1 gene , which encodes for the E 3 BP subunit of the pyruvate dehydrogenase complex .

Diseases
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Diseases presenting "binding protein deficiency" symptom

pyruvate dehydrogenase deficiency

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