| Literature DB >> 17628222 |
Dimitrios I Zafeiriou1, Euthymia Vargiami, Ertan Mayapetek, Persephone Augoustidou-Savvopoulou, Grant A Mitchell.
Abstract
We report the case of an 8-month-old infant with 3-hydroxy-3-methylglutaryl coenzyme A deficiency (OMIM 246450), an inborn error of leucine catabolism and ketogenesis, who presented with nonketotic hypoglycemia and seizures. He demonstrated reversible white matter changes on serial brain magnetic resonance imaging, together with clinical normalization, after initiation of a leucine-restricted diet.Entities:
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Year: 2007 PMID： 17628222 DOI： 10.1016/j.pediatrneurol.2007.02.007
Source DB: PubMed Journal: Pediatr Neurol ISSN： 0887-8994 Impact factor: 3.372