Reversion of white matter changes with treatment of HMG-CoA lyase deficiency.

Posted by & filed under Part 09: ORGANIC ACIDS, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Treatment.

Pediatr Neurol. 2007 Jul;37(1):47-50.

3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white
matter changes after treatment.

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
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