3-Hydroxy-3-Methylglutaryl Coenzyme A Lyase Deficiency with Reversible White Matter Changes after Treatment

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 re...

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Veröffentlicht in:	Pediatric neurology 2007-07, Vol.37 (1), p.47-50
Hauptverfasser:	Zafeiriou, Dimitrios I., MD, PhD, Vargiami, Euthymia, MD, PhD, Mayapetek, Ertan, MD, PhD, Augoustidou-Savvopoulou, Persephone, MD, PhD, Mitchell, Grant A., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Biological and medical sciences Brain - metabolism Brain - pathology Brain Diseases, Metabolic, Inborn - genetics Brain Diseases, Metabolic, Inborn - metabolism Brain Diseases, Metabolic, Inborn - therapy Humans Immunomodulators Infant Magnetic Resonance Imaging Male Medical sciences Molecular Sequence Data Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Neurology Oxo-Acid-Lyases - deficiency Oxo-Acid-Lyases - genetics Pediatrics Pharmacology. Drug treatments Point Mutation
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Zusammenfassung:	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.
ISSN:	0887-8994 1873-5150
DOI:	10.1016/j.pediatrneurol.2007.02.007