X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr³⁸⁸-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase

Abstract

We identified a point mutation resulting in an amino acid change near the pyridoxal phosphate-binding site of the erythroid 5-aminolevulinate synthase isoenzyme as the underlying defect in a kindred with X-linked pyridoxine-responsive sideroblastic anemia.