Glutathionuria

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Glutathionuria is characterised by high levels of glutathionuria in urine which can be diagnosed via urinalysis.

Currently, it has been reported that 7 people have been diagnosed with this condition.

5 individuals who have been diagnosed with this condition have found to have nervous system complications. Individuals have reported symptoms in USA, Germany, Japan, The Netherlands, Poland, and Spain.

• Cross-eyed
• Tremors
• Intellectual disability
• Behavioural disturbances
• Potential seizures

Symptoms for this condition are hard to predict due to the low number of individuals diagnosed with this condition

Glutathionuria is diagnosed by high levels of glutathionuria present within urine, this can be found via urinalysis. This may also present within blood plasma and therefore be determined via a blood test which would involve placing a fine needle into your child’s vain to drain a blood sample.

Due to the rare nature of this condition, research in this area is very limited.

Glutathionuria 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 Glutathionuria. 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.

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.