Neurology 2020 11 4;95(19):e2675-e2682. Epub 2020 Sep 4.
From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Objective: To determine genotype-phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency.
Methods: variants were studied with phenotype correlation in the SSADH natural history study. Assignment of gene variant pathogenicity was based on in silico testing and in vitro enzyme activity after site-directed mutagenesis and expression in HEK293 cells. Read More