Abstract
3-ketothiolase deficiency is an inherited disorder of isoleucine degradation, characterized by excretion of 2-methyl-3-hydroxybutyric acid and tiglylglycine. The clinical findings vary widely, from life-threatening acidosis a few days after birth, to single episodes of acidosis in late childhood.
We have investigated the biochemical basis of this clinical heterogeneity. The pathway of isoleucine degradation was studied in cultured fibroblasts by measuring the incorporation of 14-C from 2-methylbutyric acid into protein(Iden et al. Soc Study Inborn Errors Metab, 24th Ann Symp, Amersfoort 1986,Abstr 25). Fibro-blasts from 18 verified or suspected cases of 3-ketothiolase deficiency were studied. Three cell lines showed normal incorporation, whereas in 15 cases the incorporation varied from 2% to 79% of controls, low incorporation correlating with clinically severe disease.
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Iden, P., Søvik, O., Sweetman, L. et al. 3-KETOTHIOLASE DEFICIENCY: BIOCHEMICAL INVESTIGATION OF 15 CASES. Pediatr Res 22, 236 (1987). https://doi.org/10.1203/00006450-198708000-00135
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DOI: https://doi.org/10.1203/00006450-198708000-00135
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