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.K m 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.
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Gibson, K.M., Sweetman, L., Nyhan, W.L. et al. Demonstration of 4-Aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts. J Inherit Metab Dis 8, 204–208 (1985). https://doi.org/10.1007/BF01805436
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DOI: https://doi.org/10.1007/BF01805436