X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase
Open Access
- 10 March 1994
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 330 (10) , 675-679
- https://doi.org/10.1056/nejm199403103301004
Abstract
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 precursor to the cofactor of the enzyme. The recently identified gene for an erythroid-specific 5-aminolevulinate synthase isoenzyme and its localization to the X chromosome make it likely that one or more defects in this gene underlie the anemia.Keywords
This publication has 13 references indexed in Scilit:
- Heme biosynthesis in mammalian systems: Evidence of a schiff base linkage between the pyridoxal 5′‐phosphate cofactor and a lysine residue in 5‐aminolevulinate synthaseProtein Science, 1993
- 5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cellsAmerican Journal of Hematology, 1992
- Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemiaHuman Molecular Genetics, 1992
- Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosomeGenomics, 1990
- 2-Amino-3-ketobutyrate CoA ligase of Escherichia coli: stoichiometry of pyridoxal phosphate binding and location of the pyridoxyllysine peptide in the primary structure of the enzymeBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1990
- [6] Use of T7 RNA polymerase to direct expression of cloned genesPublished by Elsevier ,1990
- Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes.Proceedings of the National Academy of Sciences, 1989
- Nucleotide sequence of the 2-amino-3-ketobutyrate coenzyme A ligase (kbl) gene ofE.coliNucleic Acids Research, 1988
- Measurement of 5-aminolevulinic acid synthase activity in whole and fractionated human bone marrow: Effect of myeloid cell lysis by monoclonal antibodyAnalytical Biochemistry, 1986
- The selective removal of red blood cells from bone marrow cell suspensionsLeukemia Research, 1979