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

Glutaric acidemia type II (GA II) is a metabolic disorder caused by deficiency of electron transport flavoprotein or its oxyreductase. It is characterized by acidosis, hypoglycemia, hyperammonemia, organic aciduria, and "sweat-sock" odor. Neonatal GA II differs from most inborn metabolic errors in that there are prominent congenital malformations. We recently observed two infants at autopsy with GA II whose malformations included: subcortical renal glomerular cysts, renal medullary dysplasia, cerebral pachygyria, pulmonary hypoplasia, and facial dysmorphism. In addition, there was lipid accumulation in liver, heart, and renal tubular epithelium, tissues that use fatty acids as a primary source of energy. Review of previous reports of 12 patients showed that these lesions are typical of neonatal GA II. The pattern of lesions, in particular the striking localization of renal dysplasia to the medulla, suggests that the malformations may be the consequence of an accumulation of toxic metabolites that is not corrected by placental transfer.
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PMID:Glutaric acidemia type II. Comparison of pathologic features in two infants. 317 28