title: Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
authors.affiliation: Department of Pediatrics, University of California, San Diego, La Jolla.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: S I
authors.initials: SI
authors.lastname: Goodman
authors.forename: F E
authors.initials: FE
authors.lastname: Frerman
authors.forename: A M
authors.initials: AM
authors.lastname: Glasgow
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D003998:Dicarboxylic Acids / Q000652:urine*; D005260:Female; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine*; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D012978:Sodium Oxybate / Q000652:urine*; D050644:Succinate-Semialdehyde Dehydrogenase
chemical_list: D003998:Dicarboxylic Acids; D006885:Hydroxybutyrates; D012978:Sodium Oxybate; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase