Variability of OTC deficiency in heterozygous carriers: Case report of a family

Abstract

Abstract We present three case reports of a family affected by ornithine transcarbamylase deficiency (OTC-D), the most common urea cycle disorder. The case reports demonstrate the variable clinical phenotype of OTC-D in heterozygous carriers, even in one family. Based on these reports, OTC-D and its biochemical hallmarks are discussed.