What else is it called?
- Gamma-glutamyltransferase deficiency
- Gamma-glutamyltranspeptidase deficiency
- GGT deficiency
- GTG deficiency
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What causes it?
Glutathionuria is characterised by high levels of glutathionuria in urine which can be diagnosed via urinalysis.
How common is it?
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.
What are the signs and symptoms?
- 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
How is it diagnosed?
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.
Can it be treated?
Due to the rare nature of this condition, research in this area is very limited.
Do my family need to be tested?
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.