29 авг. 2013 г. · Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset.

29 апр. 2003 г. · Ornithine transcarbamylase deficiency (OTC deficiency). Absence of OTC activity in males is as severe as CPS1 deficiency. Approximately 15% of ...

1 февр. 2017 г. · The OTC gene provides instructions for making the enzyme ornithine transcarbamylase. Learn about this gene and related health conditions.

1 сент. 2011 г. · A female with OTC deficiency may have a de novo gene mutation or she may have inherited the OTC mutation from either her mother or her father.

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle, which causes hyperammonemia.

A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males.

1 окт. 2017 г. · Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood.

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine ...

Ornithine transcarbamylase deficiency, commonly called OTC deficiency, is a rare genetic condition that causes ammonia to build up in the blood. What is Ornithine... · Causes · Testing and diagnosis

Ornithine transcarbamylase (OTC) deficiency, like other UCD subtypes, results in elevated ammonia levels, putting patients at risk of neurological complications ...