Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

ABSTRACT: Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate it from other causes of intellectual disability or learning disabilities. Dietary management and arginine supplementation, if initiated early, may ameliorate symptoms.Because of the nonspecific nature of the symptoms and the possibility for therapeutic management, ASL deficiency is part of the recommended uniform screening panel for newborn screening in the USA. We report here a case of ASL deficiency that was missed on newborn screening in the USA.The case reported here has two known pathogenic

SUBMITTER: Ganetzky RD 

PROVIDER: S-EPMC5509549 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature