Aminoacylase 1 Deficiency

Contact our caring team on 0800 652 3181 for help and support. Our phone lines open 10am-4pm, Monday to Friday.

Calls are free from UK landlines and mobiles. Calls from business lines may be charged – please check with your provider.

Prefer to email? Our email address is contact@metabolicsupport.org.

This is a rare inherited metabolic disorder which is caused by faults in the ACY1 gene and characterised by high levels of specific amino acids in the urine. It is thought that ACY1 may trigger changes which affect the severity or development of different disorders affecting the brain.

This is a very rare disorder. Less than 20 cases have been reported in literature so far.

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.

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.