What else is it called?
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What causes it?
Iminoglycinuria is a metabolic disorder which results in defective renal tube reabsorption of proline, hydroxyproline and glycine [amino acid transport]. This disorder does not usually present symptoms [asymptomatic]. It is usually detected through an increased level of amino acid and glycine present within urine samples. It is understood that mutations to the PAT2 renal transporter are what cause the metabolic condition, Iminoglycinuria.
A non-inherited cause of excess urinary excretion of proline and glycine, like that found in iminoglycinuria, is quite common to newborn infants younger than 6 months, this is referred to as neonatal iminoglycinuria.
How common is it?
Prevalence for this metabolic disorder is estimated to be between 1-15,000 people worldwide. Due to the rareness of this disorder, it is difficult to determine if this condition effects male or females more or is more common in a specific ethnicity.
What are the signs and symptoms?
As previously stated, this disorder is usually asymptomatic, however some symptoms that may present with this condition are:
- Abnormality of the eye
- Elevated urinary hydroxyproline
- High urine glycine levels
- Intellectual disability
How is it diagnosed?
This disorder does not usually present symptoms, detection is usually through an increased level of amino acid and glycine present within urine. Therefore, this disorder is usually detected through urinalysis, this involves producing a urine sample for a specialist to check the levels of metabolites present within urine. This may be either a 24-hour urine collection in which urine samples are collected from you over a 24-hour period or a random urine sample which is then checked to possibly diagnose this condition.
Can it be treated?
Due to the rare nature of this condition, current research into treatment options are very limited at present. Treatment is usually aimed at managing the symptoms which present.
Do my family need to be tested?
Iminoglycinuria 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 inheritedIminoglycinuria. 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 Iminoglycinuria and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.