Cytosolic Acetoacetyl-CoA Thiolase Deficiency

What else is it called?

Get in touch

Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.

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What causes it?

How common is it?

This disorder is caused by a problem in the ACAT2 gene. This gene provides information for cytosolic acetoacetyl-CoA thiolase which takes part in the utilisation of ketone bodies.

There is not enough information available about this disorder to write a summary. However if you or someone you know has been diagnosed with this disorder, please get in touch and we will be happy to help in navigating what information is available, help you to make the most of your appointments, and offer emotional and practical support and advice.

What are the signs and symptoms?

How is it diagnosed?

Can it be treated?

Do my family need to be tested?

Relevant Organisations


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

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