title: Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.
abstract: We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity.
authors.affiliation: Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay.
authors.forename: Aida
authors.initials: A
authors.lastname: Lemes
authors.forename: Paola
authors.initials: P
authors.lastname: Blasi
authors.forename: Gabriel
authors.initials: G
authors.lastname: Gonzales
authors.forename: Maria E
authors.initials: ME
authors.lastname: Russi
authors.forename: Roberto
authors.initials: R
authors.lastname: Quadrelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Novelletto
authors.forename: Patrizia
authors.initials: P
authors.lastname: Malaspina
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D014583:Uruguay
chemical_list: D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D050644:Succinate-Semialdehyde Dehydrogenase