Cystathioninuria: nature of the defect.

Abstract

A homogenate of liver obtained by biopsy from two patients with cystathioninuria, an inborn error of metabolism, cleaved radioactive cystathionine only slightly until an excess of pyridoxal phosphate was added. The apoenzyme failed to bind the coenzyme normally. Pyridoxine therapy of familial cystathioninuria thus has a sound basis. 

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