Inosine Triphosphatase Deficiency

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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.

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.

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.

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.

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.

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.

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.