Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
Gibson
K M
KM
Department of Pediatrics, University of California, San Diego, La Jolla.
Goodman
S I
SI
Frerman
F E
FE
Glasgow
A M
AM
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
D003998:Dicarboxylic Acids; D006885:Hydroxybutyrates; D012978:Sodium Oxybate; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase