Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Abstract excerpt

BACKGROUND: Succinic semialdehyde dehydrogenase deficiency is a rare neurological disorder resulting from impaired gamma-aminobutyric acid metabolism. The syndrome typically presents as a static encephalopathy with developmental delays, hypotonia, and seizures. METHODS: A six-month-old previously healthy girl developed acute choreoathetosis and severe hypotonia in the setting of influenza A infection. In our...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain
• Share to Amino Acid Metabolism, Inborn Errors