Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:MR imaging findings of glutaric aciduria type II. 2050 99