Society guideline links: Urea cycle disorders

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: Inborn errors of metabolism".)

United States

●American College of Medicinal Genetics (ACMG): Newborn screening ACT sheet – [Decreased citrulline]* Urea cycle disorder (2012)

●ACMG: Newborn screening ACT sheet – [Increased arginine] Amino aciduria/urea cycle disorder (2012)

●ACMG: Newborn screening ACT sheet – [Increased citrulline] Amino aciduria/urea cycle disorder (2012)

●ACMG: Transition to adult health care ACT sheet – Arginase deficiency (argininemia, hyperargininemia, ARG1 deficiency) [urea cycle disorder] (2012)

●ACMG: Transition to adult health care ACT sheet – Argininosuccinic acidemia (argininosuccinic aciduria, argininosuccinic acid lyase deficiency, argininosuccinate lyase deficiency, ASL deficiency, argininosuccinase deficiency) [urea cycle disorder] (2012)

●ACMG: Transition to adult health care ACT sheet – Carbamoyl phosphate synthetase I (CPS I) deficiency [urea cycle disorder] (2012)

●ACMG: Transition to adult health care ACT sheet – Citrin deficiency (citrullinemia II) [urea cycle disorder] (2012)

●ACMG: Transition to adult health care ACT sheet – Citrullinemia I [urea cycle disorder] (2012)

●ACMG: Transition to adult health care ACT sheet – N-acetylglutamate synthase (NAGS) deficiency [urea cycle disorder] (2012)

●ACMG: Transition to adult health care ACT sheet – Ornithine transcarbamylase (OTC) deficiency [urea cycle disorder] (2012)

Europe

●Society for the Study of Inborn Errors of Metabolism (SSIEM): Suggested guidelines for the diagnosis and management of urea cycle disorders, first revision (2019)