MR imaging findings of glutaric aciduria type II

作者：Mumtaz H A; Gupta V^*; Singh P; Marwaha R K; Khandelwal N

来源：Singapore Medical Journal, 2010, 51(4): E69-E71.

• magnetic resonance imaging
• multiple acyl coenzyme A dehydrogenase deficiency

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.

• 出版日期2010-4
• 单位河北医科大学