Management of metabolic crisis in three-dayold newborn

Abstract

Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload. Newborns with severe mutations in the urea cycle, unless treated, rapidly develop cerebral edema, coma and death.

Keywords

• hyperammonemia
• ornithine transcarbamylase deficiency disease
• urea cycle disorder