Amino acid metabolism disorders
The UK NSC policy on Amino acid metabolism disorder screening in newborns (except for PKU)
More Information
Amino acid metabolism disorders are a group of inherited disorders where the body is not able to metabolise amino acids consumed in the diet. Amino acids are the building blocks of proteins and are metabolised in order to provide energy or to make other needed compounds.
» See the UK NSC policy on phenylketonuria screening
Policy Position
This policy covers the following rare inherited amino acid metabolism disorders (the policy for phenylketonuria screening is considered separately):
- Argininosuccinic acidaemia
- Citrullinaemia
- Homocystinuria
- Maple syrup urine disease
- Tyrosinaemia type I
Screening for these conditions should not be offered.
This policy was reviewed in Feb 2009 but no significant changes were made. It is due to be considered again in 2011/12, or earlier if significant new evidence emerges.
Evidence Supporting the Policy
Review of this policy is ongoing. This policy was last reviewed in February 2009.
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Institute of Child Health
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
