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

Dimitrios I Zafeiriou; Euthymia Vargiami; Ertan Mayapetek; Persephone Augoustidou-Savvopoulou; Grant A Mitchell

doi:10.1016/j.pediatrneurol.2007.02.007

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

Pediatr Neurol. 2007 Jul;37(1):47-50. doi: 10.1016/j.pediatrneurol.2007.02.007.

Authors

Dimitrios I Zafeiriou¹, Euthymia Vargiami, Ertan Mayapetek, Persephone Augoustidou-Savvopoulou, Grant A Mitchell

Affiliation

¹ 1st Department of Pediatrics, Aristotle University, Thessaloniki, Greece. jeff@med.auth.gr

PMID: 17628222
DOI: 10.1016/j.pediatrneurol.2007.02.007

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.

Publication types

Case Reports

MeSH terms

Amino Acid Sequence
Brain / metabolism
Brain / pathology*
Brain Diseases, Metabolic, Inborn / genetics
Brain Diseases, Metabolic, Inborn / metabolism*
Brain Diseases, Metabolic, Inborn / therapy
Humans
Infant
Magnetic Resonance Imaging
Male
Molecular Sequence Data
Oxo-Acid-Lyases / deficiency*
Oxo-Acid-Lyases / genetics
Point Mutation

Substances

Oxo-Acid-Lyases
3-hydroxy-3-methylglutaryl-coenzyme A lyase

Associated data

OMIM/246450