1. Glutaric aciduria type II: a case report.
- Author
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Domizio S, Romanelli A, Brindisino P, Puglielli C, Conte E, Domizio R, Sgarrella MC, and Sabatino G
- Subjects
- Echocardiography, Electron-Transferring Flavoproteins metabolism, Enzymes blood, Fatal Outcome, Female, Flavoproteins metabolism, Humans, Infant, Newborn, Iron-Sulfur Proteins metabolism, Male, Oxidoreductases Acting on CH-NH Group Donors metabolism, Pregnancy, Pregnancy Complications pathology, Respiratory Distress Syndrome, Newborn pathology, Fatty Acids metabolism, Glutarates urine, Lipid Metabolism, Inborn Errors urine
- 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.
- Published
- 2005
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