Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.
K M
KM
Gibson
L
L
Sweetman
V
V
Kozich
A
A
Pijackova
A
A
Tscharre
A
A
Cortez
F
F
Eyskens
C
C
Jakobs
M
M
Duran
B T
BT
Poll-The
D000445:Aldehyde Oxidoreductases / Q000172:deficiency* / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D050644:Succinate-Semialdehyde Dehydrogenase
D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase