Asparagine Synthetase Deficiency

Asparagine synthetase deficiency is a condition that causes neurological problems in affected people starting quickly after birth. Lots of people with this condition have an abnormally small head size that intensifies over time as a result of loss of brain tissue. Most people with asparagine synthetase deficiency have exaggerated reflexes and weak muscular tissue tone. Many affected people also have recurrent seizures. People with asparagine synthetase deficiency might have an exaggerated startle response to unanticipated stimuli. Some affected individuals have blindness because of impairment of the area of the brain responsible for processing vision, called the occipital cortex. People with asparagine synthetase deficiency typically do not make it through previous childhood.

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

** If you believe that content on the Plex is summarised improperly, please, contact us, and we will get rid of it quickly; please, send an email with a brief explanation.