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 language | English (US) |
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Pages (from-to) | 257-259 |
Number of pages | 3 |
Journal | European Journal of Pediatrics |
Volume | 142 |
Issue number | 4 |
DOIs | |
State | Published - Sep 1984 |
Externally published | Yes |
Keywords
- 4-aminobutyric acid
- 4-hydroxybutyric aciduria
- Lymphoblast
- Lymphocyte
- Succinic semialdehyde dehydrogenase
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health