ACY2 Deficiency

Below you will find more information about ACY2 Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of ACY2 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 ACY2 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 ACY2 Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

ACY2 deficiency is a genetic disorder that features a spongy degeneration of the central nervous system. The signs that indicate the onset of the disease begin at infancy, usually characterized by progressive mental decline and rapid loss of head control, balance and coordination. Patients with the disease have an abnormally large head due to swelling. This disease is caused by an abnormal mutation in the ASPA gene that makes the cells unable to produce an important enzyme for brain and muscle development, aspartocylase.

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