The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

ABSTRACT: Expanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we compared the clinical, biochemical, and molecular features of 10 patients with mildly elevated citrulline levels. Three patients presented with clinical illness whereas seven came to attention as a result of expanded newborn screening. One patient presented during pregnancy and responded promptly to IV sodium phenylacetate/sodium benzoate and arginine therapy with no long-term adverse effects on mother or fetus. Two children presented with neurocognitive dysfunction, one of these responded dramatically to dietary protein reduction. ASS enzyme activity was not deficient in

SUBMITTER: Dimmock DP 

PROVIDER: S-EPMC2597641 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature