The UK NSC recommendation on Amino acid metabolism disorders screening in newborns (currently in consultation)
Find general information about population health screening.
Why is screening not recommended by UK NSC?
The UK NSC does not currently recommend screening for the amino acid metabolism disorders; Tyrosinaemia type 1, Citrullinaemia (CIT) and Argininosuccinate lyase (ASL) deficiency in newborn babies. This is because: -
More about Amino acid metabolism disorders
Amino acid metabolism disorders are a group of inherited conditions caused by a particular enzyme (a chemical found naturally in the body) being faulty or missing. This leads to problems breaking down certain amino acids. Amino acids are the building blocks of proteins and are metabolised in order to provide energy or to make other needed compounds.
This disorder leads to a build up of unwanted chemicals that can cause damage to vital parts of the body such as the liver.
• British Inherited Metabolic Disease Group
The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
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Confidentiality and disclosure
Information provided in response to this consultation, including personal information, may be subject to publication or release to other parties or to disclosure in accordance with the access to information regimes (these are primarily the Freedom of Information Act 2000, the Data Protection Act 1998, and the Environmental Information Regulations 2004). If you want information, including personal data that you provide to be treated as confidential, please be aware that, under the FOIA, there is a statutory Code of Practice with which public authorities must comply and which deals, amongst other things, with obligations of confidence.
In view of this it would be helpful if you could explain to us why you regard the information you have provided as confidential. If we receive a request for disclosure of the information we will take full account of your explanation, but we cannot give an assurance that confidentiality can be maintained in all circumstances. An automatic confidentiality disclaimer generated by your IT system will not, of itself, be regarded as binding on the UK National Screening Committee.
Any request for information to be treated in confidence will be taken into consideration in the publication of responses to the consultation. The UK National Screening Committee intends to publish all responses following the closure of the consultation period, however we will not publish responses from respondents who request that any of the information in their response, including personal data, should be handled in confidence. The UK National Screening Committee reserves the right not to publish or take into account any representations which are openly offensive or defamatory.
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