Home » Diseases Index (A) » ACY2 DEFICIENCY: WHAT IS ACY2 DEFICIENCY?

ACY2 DEFICIENCY: WHAT IS ACY2 DEFICIENCY?

Read about acy2 deficiency medical facts: what is the definition of acy2 deficiency, and related acy2 deficiency diseases.

Definition: What is "ACY2 Deficiency"?

ACY2 DEFICIENCY

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 & rapid loss of head control, balance & 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 & muscle development, aspartocylase.

Search Related To: ACY2, Deficiency



Share on Google Plus Share on Facebook Share on Twitter Share on LinkedIn
Find @ SignsSymptoms.org: Diseases Conditions 'What Is Diseases', Treatments, Signs & Symptoms, Health Articles & Library

Home | About | Contact | Privacy Policy | Sitemap
Copyright 2018 © SignsSymptoms.org - All Rights Reserved