Journal Article10.1056/NEJM199403103301004
X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase
Timothy C. Cox,Sylvia S. Bottomley,James S. Wiley,Michael J. Bawden,Christopher S Matthews,Brian K. May +5 more
TL;DR: A point mutation resulting in an amino acid change near the pyridoxal phosphate-binding site of the erythroid 5-aminolevulinate synthase isoenzyme is identified as the underlying defect in a kindred with X-linked pyrIDoxine-responsive sideroblastic anemia.
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Abstract: Background X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid cells, and some cases are responsive to treatment with pyridoxine, the p...
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TL;DR: The amino acid substitution occurred in the exon containing the putative pyridoxal 5'-phosphate binding site and may account for the reduced ability of the cofactor to catalyze the formation of delta-aminolevulinic acid.
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