Article
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Pediatrics - 1 May 2012
Mercimek-Mahmutoglu Saadet, Horvath Gabriella A, Coulter-Mackie Marion, Nelson Tanya, Waters Paula J, Sargent Michael, Struys Eduard, Jakobs Cornelis, Stockler-Ipsiroglu Sylvia, Connolly Mary B
Abstract excerpt
Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients with classic PDE. We report the case of a 13-month-old girl with profound neonatal hypoglycemia (0.6 mmol/L; reference range >2.4),...
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