A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
case_report · Level V
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Abstract
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.
Medical subject headings
- Acidosis, Lactic
- Gene Deletion
- Infant, Newborn, Diseases
- Pyruvate Dehydrogenase (Lipoamide)