Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency.

ABSTRACT: We report on a family with ornithine transcarbamylase (OTC) deficiency, an X-linked urea cycle disorder, with variable disease severity and tailored management strategies based on each family member's biochemical profile and clinical presentation. Our primary patient is a female monozygotic twin who presented to medical care at 10 months of age with acute liver failure, gastrointestinal symptoms, altered mental status, hypoglycemia, and hyperammonemia. The patient's older brother, known to have hemizygous OTC deficiency, died at 8 months of age from cardiac arrest after complications secondary to his diagnosis. Despite her family history, manifestation of symptoms of heterozygous (partial) OTC deficiency went unrecognized by multiple providers based on misconceptions regarding a female's r

SUBMITTER: Baker J 

PROVIDER: S-EPMC9817479 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature