Sarcosinaemia

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Sarcosinaemia is a rare inherited metabolic condition which is characterised by an increased level of the amino acid sarcosine prominent within blood and urine. It is caused by mutations to the SARDH gene located on chromosome 9q34 and is inherited in an autosomal recessive manner.

Prevalence is believed to be between 1 in 28,000-350,000 in new-born screening testing. Currently, there is no evidence to suggest that this condition has a higher prevalence in males or females or different ethnicities.

An enlarged liver can be a sign of this condition due to an increased metabolism of sarcosine, failure to thrive, cardiomyopathy, intellectual inability and vision and hearing problems. Although it is reported to be benign and unrelated to significant symptoms.

Treatment is generally not needed for this condition as it is benign and does not cause problems to the body. Certain corrective techniques may be used dependant upon the extent to which the person has the condition and symptoms that they may be experiencing although from research there is no clear evidence what these corrective treatments are, contacting your local metabolic consultant or paediatrician for more information into this may be useful. For all treatment offered, medical care and follow up therapy are also given when treatment is given.

Sarcosinaemia can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.

If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.

If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.

Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inherited Sarcosinaemia. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.

If you have previously had a child with Sarcosinaemia and go on to have further children, their Newborn Screening test should be carried out within 24-48 hours of birth.

References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.

Please note calls to 0800 numbers are free from UK landlines and mobiles. Calls from business lines may be charged – please check with your provider.

This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.

Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.