%0 Journal Article
%T Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review
%A David Alejos
%A Michael A. Pizzi
%A Paldeep S. Atwal
%A Suparna R. Krishnaiengar
%A Tasneem F. Hasan
%A William D. Freeman
%J The Neurohospitalist
%@ 1941-8752
%D 2019
%R 10.1177/1941874418764817
%X Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that usually presents in the neonatal period. Late-onset presentation of OTC can cause mild to severe symptoms. We describe laboratory and clinical findings of late-onset presentations of OTC deficiency. We conducted a literature search using search terms ˇ°ornithine transcarbamylase deficiency,ˇ± ˇ°late onset presentation,ˇ± and ˇ°hyperammonemiaˇ± from January 1, 1987, to December 31, 2016, was performed. Only papers published in English were included. We searched on PubMed, MEDLINE, and Google Scholar. We also present 2 OTC deficiency cases. A total of 30 adult cases had late-onset presentation of OTC deficiency reported. The majority were women (57%) with a median age of 37 years. The median level of ammonia was 308 mmol/L and the mortality rate was 30%. Our case 1 was a 40-year-old woman who succumbed to neurologic complications after a hyperammonemia crisis following an increased protein intake. Our case 2 was a 43-year-old woman with seizures associated with increased ammonia levels. Our 2 case reports show the wide phenotypic variability and severity in late-onset presentation of OTC ranging from seizures to cerebral herniation. Our literature review is the first to detail published laboratory and neurologic sequelae of late-onset OTC deficiency
%K hyperammonemia
%K intracranial hypertension
%K late-onset disorders
%K ornithine transcarbamylase deficiency
%K seizure
%U https://journals.sagepub.com/doi/full/10.1177/1941874418764817