MR imaging findings of glutaric aciduria type II.
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.
Mumtaz
H A
HA
Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh 160012, India.
Gupta
V
V
Singh
P
P
Marwaha
R K
RK
Khandelwal
N
N
D003337:Corpus Callosum / Q000473:pathology; D003342:Corpus Striatum / Q000473:pathology; D044927:Electron-Transferring Flavoproteins / Q000737:chemistry; D006801:Humans; D007223:Infant; D007506:Iron-Sulfur Proteins / Q000737:chemistry; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis* / Q000473:pathology*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000737:chemistry; D010641:Phenotype
D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase