Organic acid metabolism disorders (policy currently under review)
The UK NSC policy on Organic acid metabolism disorders screening in newborns
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 a part of carbohydrates, fats and proteins and are metabolised in order to provide energy or to make other needed compounds.
Policy Position
This policy covers the following rare inherited amino acid metabolism disorders (the policy for phenylketonuria screening is considered separately):
- Methylmalonic acidaemia
- Propionic acidemia
- Isovaleric acidemia
- Maple syrup urine disease
Screening for these conditions should not be offered.
This policy is currently being reviewed as part of the UK NSC's regular review cycle of all policies.
The review process began in Jan 2010 and is estimated to be completed by Jul 2012.
Evidence Supporting the Policy
Awaiting completion.
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Institute of Child Health
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.
