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  • Title: A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
    Author: Dey R, Mine M, Desguerre I, Slama A, Van Den Berghe L, Brivet M, Aral B, Marsac C.
    Journal: Ann Neurol; 2003 Feb; 53(2):273-7. PubMed ID: 12557299.
    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.
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