Aminoacylase 1 Deficiency

What else is it called?

  • ACY1D
  • Deficiency of the aminoacylase-1 enzyme
  • N-acyl-L-amino acid amidohydrolase deficiency

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?

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.

How common is it?

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.

What are the signs and symptoms?

How is it diagnosed?

Can it be treated?

Do my family need to be tested?

Relevant Organisations


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