Glutamine Deficiency, Congenital (CSGD)

Glutamine Deficiency, Congenital, also known as glutamine synthase deficiency, congenital systemic, is related to congenital brain dysgenesis due to glutamine synthetase deficiency and chondrodysplasia punctata 1, x-linked recessive, and has symptoms including apnea and seizures. An important gene associated with Glutamine Deficiency, Congenital is GLUL (Glutamate-Ammonia Ligase). Affiliated tissues include brain and cerebellum, and related phenotypes are seizure and recurrent respiratory infections