Adenylosuccinase Deficiency

Below you will find more information about Adenylosuccinase Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Adenylosuccinase Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Adenylosuccinase Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Adenylosuccinase Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Adenylosuccinase deficiency is an autosomal recessive disease that affects purine synthesis. Among the main features of this disease are slow development of psychomotor skills as well as epileptic seizures and autism. It can be detected by means of testing abnormal purine metabolites present in body fluids. There is no cure available yet for the disorder.

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