Inosine Triphosphatase Deficiency

What else is it called?

  • ITPA deficiency

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What causes it?

Inosine Triphosphatase deficiency [ITPA deficiency] is an inherited metabolic condition characterised by an excess accumulation of the metabolite, Inosine triphosphate in red blood cells. The ITPA gene, when functioning optimally, provides the body with instructions to produce the Inosine triphosphatase enzyme [ITPase]. This allows for the effective metabolism of Inosine triphosphate into smaller subgroups. However, when there is a gene mutation, the body cannot produce the enzyme needed to break down Inosine triphosphate and this results in the build-up of potentially harmful molecules in the body. It is currently unclear what gene mutation causes this condition, research persists in this area.

How common is it?

It is estimated that Inosine Triphosphate deficiency condition impacts 5 people out of every 100 worldwide. It is unclear whether this condition is more common in females or males or in specific ethnicities.

What are the signs and symptoms?

The age at which symptoms become apparent is unclear, this could be due to how rare Inosine Triphosphatase deficiency is. There have been no reports of any physical symptoms of this condition, the only sign and symptom of this condition is the accumulation of Inosine triphosphate in red blood cells.

How is it diagnosed?

Due to the rarity of this condition, it is unclear how this condition is diagnosed. As there is a build-up of Inosine triphosphate in red blood cells, it may be that this condition is diagnosed via blood sample to check for elevated levels of the metabolite.

Can it be treated?

As this is quite a rare condition, there is limited information into the treatment or cure that is available for this condition. Research persists into treatment for this condition.

Do my family need to be tested?

Once you are diagnosed with Inosine Triphosphatase deficiency, you can speak to a genetic counsellor. They can explain how you may have inherited this condition. 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 Hyper-beta-alaninaemia and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.

Relevant Organisations


References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing [Resource Library No: AAP002].

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