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 resonance imaging, together with clinical normalization, after initiation of a leucine-restricted diet.
Zafeiriou
Dimitrios I
DI
1st Department of Pediatrics, Aristotle University, Thessaloniki, Greece. jeff@med.auth.gr
Vargiami
Euthymia
E
Mayapetek
Ertan
E
Augoustidou-Savvopoulou
Persephone
P
Mitchell
Grant A
GA
D000595:Amino Acid Sequence; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D007652:Oxo-Acid-Lyases / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation
D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase