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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 E3-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 (620delC) in the PDX1 gene, which encodes for the E3BP subunit of the pyruvate dehydrogenase complex.

Diseases presenting "and magnetic resonance imaging of the brain showed large subependymal cysts and no basal ganglia lesions" symptom

  • pyruvate dehydrogenase deficiency

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