Advances in Human Genetics 6 by Leon E. Rosenberg (auth.), Harry Harris, Kurt Hirschhorn

By Leon E. Rosenberg (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Using an autoradiographic assay which measures 14C-propionate incorporation into TCA-precipitable material in intact fibroblasts in situ ,56 Gravel et al. 46 have examined 12 mutant cell lines and have shown that each of the four mutant phenotypes described above incorporates negligible amounts of radioactivity when compared 29 Chapter 1: Vitamin-Responsive Metabolic Disorders to control cells. Activity is likewise negligible when the different mutants are mixed without Sendai virus or when homokaryons are produced by self-fusion.

PLP functions as a coenzyme in such diverse reactions as racemization, transamination, decarboxylation, deamination, alcohol formation, a-f3 elimination, a-f3 addition, and amine oxidation. Snell and his colleagues showed that PLP reacts with amino acids under appropriate conditions to form Schiff bases which promote electron shifts and subsequent metabolic rearrangements. In fact, such Schiff base formation can take place in a protein-free chemically defined system. However, the rate and the Chapter 1: Vitamin-Responsive Metabolic Disorders 41 specificity of such rearrangements have been shown to depend on the interaction between PLP and a specific apoenzyme.

Thus TC I deficiency of moderate severity can lower serum B12 content significantly without causing any demonstrable hematopoietic disturbance. Whether total TC I deficiency would be equally innocuous is entirely speculative. lACEMASE t I I I ~ valine thymine CoA CD OH-CBL I I ADO-CBL MUTASE ®0te L- Methylmalonyl- CoA Succinyl- - - - .. CO 2 Fig. 6. Pathway of methylmalonyl-CoA formation and utilization. Its precursor, propionyl-CoA, derives from the several sources shown. Its products, succinyl-CoA, has numerous metabolic fates of importance.

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