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

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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The turnover of PLP in the cell is rapid. It is oxidized in the liver to 4pyridoxic acid, which is then excreted in the urine. 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.

I i ~ at 27 Chapter 1: Vitamin-Responsive Metabolic Disorders restored propionate oxidation toward normal and raised Ado-Cbl content to the normal range. 129 In 1969, still another variant of congenital methylmalonicaciduria was described by Mudd et al. 101 They reported a male infant with developmental arrest and methylmalonicaciduria who, unlike any of the preceding cases, had homocystinuria and reduced plasma methionine concentrations as well. His liver contained only a tiny fraction of the Ado-Cbl content found in normal liver and his fibroblasts revealed a B 12-responsive defect in propionate oxidation.

Pyridoxinedeficient patients excrete increased amounts of kynurenine, hydroxykynurenine, and xanthurenic acid because the PLP-requiring steps which catalyze the further breakdown of these tryptophan metabolites 42 Leon E. Rosenberg are partially blocked. We shall point out subsequently that this test can no longer be considered in any way specific for pyridoxine deficiency. The clinical manifestations of pyridosine deficiency vary considerably with age. In infants, a potentially lethal convulsive disorder dominates the clinical scene.

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