Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

J Inherit Metab Dis. 1998 Jun;21(3):255-61. doi: 10.1023/a:1005368106563.

Authors

K M Gibson¹, L Sweetman, V Kozich, A Pijackova, A Tscharre, A Cortez, F Eyskens, C Jakobs, M Duran, B T Poll-The

Affiliation

¹ Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.

PMID: 9686370
DOI: 10.1023/a:1005368106563

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aldehyde Oxidoreductases / deficiency*
Aldehyde Oxidoreductases / metabolism
Amino Acid Metabolism, Inborn Errors / enzymology*
Cells, Cultured
Child
Child, Preschool
Female
Fibroblasts / enzymology
Humans
Lymphocytes / enzymology
Male
Succinate-Semialdehyde Dehydrogenase

Substances

Aldehyde Oxidoreductases
ALDH5A1 protein, human
Succinate-Semialdehyde Dehydrogenase