Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth. More detailed information about the symptoms, causes, and treatments of Congenital brain dysgenesis due to glutamine synthetase deficiency is available below.
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Congenital brain dysgenesis due to glutamine synthetase deficiency as a "rare disease".
Source - Orphanet
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