Asparagine Synthetase Deficiency

Summarized by Plex Health
Last Updated: 02 May 2022

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.

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