Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria

K. M. Gibson, L. Sweetman, W. L. Nyhan, G. Lenon, P. Divry

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Succinic semialdehyde dehydrogenase deficiency has been demonstrated in a fourth patient with 4-hydroxybutyric aciduria. Lysates of freshly isolated lymphocytes and cultured lymphoblasts of the patient had much lower than control activity in the conversion of U-14C-4-aminobutyric acid to 14C-succinic acid in an assay designed to estimate succinic semialdehyde dehydrogenase utilizing endogenous 4-aminobutyrate transaminase. Lymphocyte and lymphoblast lysates of the patient accumulated U-14C-succinic semialdehyde when incubated with U-14C-4-aminobutyric acid and NAD+ whereas none could be detected in controls. Assays using U-14C-succinic semialdehyde as substrate for succinic semialdehyde dehydrogenase in lysates of cultured lymphoblasts characterized the patient as having a severe deficiency of succinic semialdehyde dehydrogenase. The data indicate that defective activity of succinic semialdehyde dehydrogenase is responsible for 4-hydroxybutyric aciduria.

Original languageEnglish (US)
Pages (from-to)257-259
Number of pages3
JournalEuropean Journal of Pediatrics
Volume142
Issue number4
DOIs
StatePublished - Sep 1984
Externally publishedYes

Keywords

  • 4-aminobutyric acid
  • 4-hydroxybutyric aciduria
  • Lymphoblast
  • Lymphocyte
  • Succinic semialdehyde dehydrogenase

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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