Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Gibson
K M
KM
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.
Sweetman
L
L
Kozich
V
V
Pijackova
A
A
Tscharre
A
A
Cortez
A
A
Eyskens
F
F
Jakobs
C
C
Duran
M
M
Poll-The
B T
BT
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