What else is it called?
- SARDH deficiency
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What causes it?
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.
How common is it?
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.
What are the signs and symptoms?
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.
How is it diagnosed?
testing levels of amino acid present within urine.
Can it be treated?
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.
Do my family need to be tested?
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.