OTC

1 article(s) in the watch · Constitutional genetics

OTC encodes a urea-cycle enzyme. Its X-linked deficiency causes hyperammonaemia.

InheritanceX-linked recessive

Clinical spectrumHyperammonaemia, metabolic encephalopathy (carrier females sometimes symptomatic)

ManagementLow-protein diet, nitrogen scavengers, metabolic emergency; liver transplant in severe forms.

Curated publications

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Families

Ornithine transcarbamylase deficiency (OTCD, MIM#311250) — urea cycle disorder