Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 12640389.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects.
Medical subject headings
- Brain Edema
- Glutamine
- Hyperargininemia