Demonstration of 4-Aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts

K. M. Gibson, L. Sweetman, W. L. Nyhan, I. Jansen, J. Jaeken

Research output: Contribution to journalArticlepeer-review

Abstract

Lysates of lymphocytes, isolated from whole blood, and Epstein-Barr virus transformed cultured lymphoblasts catalysed the transamination of 4-aminobutyric acid with 2-oxoglutaric acid as co-substrate. 4-Aminobutyric acid aminotransferase activity in lymphocyte and lymphoblast sonicates derived from 12 unrelated control individuals (6 each) was 39 ± 19 pmol min-1 (mg protein-1) (mean ± 1 SD). Activities in lysates of both types of cell derived from a Flemish patient were less than 3% of control. 4-Aminobutyric acid aminotransferase activity in sonicates derived from the parents and a healthy sibling were 15-37% of the control mean for lymphocytes and 13-20% of the control mean in lymphoblasts, respectively. Km values in a control lymphoblast sonicate were 0.63 and 0.08 mmol L-1 for 4-aminobutyric and 2-oxoglutaric acids, respectively. These data indicate that the parents and healthy sibling are heterozygous and the patient is homozygous for a defective gene responsible for 4-aminobutyric acid aminotransferase deficiency, and that inheritance is autosomal recessive.

Original languageEnglish (US)
Pages (from-to)204-208
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume8
Issue number4
DOIs
StatePublished - Dec 1985
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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