Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review

Abstract excerpt

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 "ornithine transcarbamylase deficiency," "late onset presentation," and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Enzymes and Metabolism
• Share to Metabolism and Genetic Disorders
• Share to Neonatal Health and Biochemistry