title: Glutaric aciduria type II: a case report.
abstract: We report a case of a newborn with Glutaric aciduria type II. Pregnancy was complicated by polyhidramnios and fetal bradycardia. Cardiomegaly was detected by fetal echocardiography. The baby was admitted to the Neonatal Intensive Care Unit of Chieti with respiratory distress syndrome immediately after delivery. He showed head and neck edema, micrognathia, paucity of movement, pronounced hypotonia, bilateral cryptorchidism, micropenis, small hands, skin hyperelasticity and joint hypermobility. Serum and urine analysis showed a fatty acid beta-oxidation disorder. He died at 7 days of age for cardiac arrest and autopsy showed marked hepatic and cardiac vacuolisation, lipid storage myopathy and glial cells vacuolisation. Based upon these findings, we speculate that this infant may be suffering from inborn metabolic disease.
authors.affiliation: Neonatal Intensive Care Unit, University G. D'Annunzio - Chieti, Italy. domizio@unich.it
authors.forename: S
authors.initials: S
authors.lastname: Domizio
authors.forename: A
authors.initials: A
authors.lastname: Romanelli
authors.forename: P
authors.initials: P
authors.lastname: Brindisino
authors.forename: C
authors.initials: C
authors.lastname: Puglielli
authors.forename: E
authors.initials: E
authors.lastname: Conte
authors.forename: R
authors.initials: R
authors.lastname: Domizio
authors.forename: M C
authors.initials: MC
authors.lastname: Sgarrella
authors.forename: G
authors.initials: G
authors.lastname: Sabatino
mesh_terms: D004452:Echocardiography; D044927:Electron-Transferring Flavoproteins / Q000378:metabolism; D004798:Enzymes / Q000097:blood; D017809:Fatal Outcome; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005420:Flavoproteins / Q000378:metabolism; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D007506:Iron-Sulfur Proteins / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000652:urine*; D008297:Male; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000378:metabolism; D011247:Pregnancy; D011248:Pregnancy Complications / Q000473:pathology; D012127:Respiratory Distress Syndrome, Newborn / Q000473:pathology
chemical_list: D044927:Electron-Transferring Flavoproteins; D004798:Enzymes; D005227:Fatty Acids; D005420:Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid