Rare Diseases Symptoms Automatic Extraction

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 "severe encephalopathy" symptom

  • phenylketonuria
  • pyruvate dehydrogenase deficiency

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