Pediatr Neurol. 2007 Jul;37(1):47-50.
Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA.
In this paper, the authors describe a patient with HMG-CoA Lyase deficiency. He initially presented at 8 months with seizures during a gastroenteritis; he had hepatomegaly and elevated liver enzymes. Urine organic acids and plasma acylcarnitine profile were consistent with 3-hydroxy-3-methylglutaryl coenzyme a lyase deficiency. White matter changes were noted, but these normalized with initiation of a leucine-restricted diet. 12 months later, he was developmentaly normal.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator