Mumtaz HA, Gupta V, Singh P, Marwaha RK, Khandelwal N
Correspondence: Dr Vivek Gupta, drvivekgupta.pgi@gmail.com
ABSTRACT
Glutaric aciduria type II, also known as multiple acyl coenzyme A dehydrogenase deficiency, is an autosomal recessive, mitochondrial organic acid disorder that impairs electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase, and causes a defect in flavin metabolism or transport. It has a heterogeneous clinical presentation, with at least three different phenotypic appearances. Magnetic resonance (MR) imaging of the brain in this disorder shows a T2-weighted prolongation in the corpus striatum, putamen, caudate nucleus, middle cerebral peduncles and splenium of the corpus callosum. We report a seven-month-old male Caucasian child who presented at the paediatrics emergency department with a sweetish breath. He was clinically diagnosed with diabetic ketoacidosis. However, on MR imaging, brain evaluation and laboratory analysis, he was found to have glutaric aciduria type II.
Keywords: magnetic resonance imaging, multiple acyl coenzyme A dehydrogenase deficiency
Singapore Med J 2010; 51(4): e69-e71
