title: A study of a female with congenital sideroblastic anemia.
abstract: A female infant with congenital refractory sideroblastic anemia is described. A marked reduction of delta-aminolevulinic acid (ALA) synthetase activity of erythroblasts was noticed with and without treatment of pyridoxal phosphate. Mitochondrial neutral protease activity of erythroblasts, which inactivates specifically the apo form of ALA synthetase, was normal and the sensitivity of apo form of ALA synthetase to the neutral protease was also normal. It was speculated that the reduction of ALA synthetase activity is not due to the high speed of destruction, but rather due to the impairment in production of ALA synthetase, which could explain the unresponsiveness to pyridoxine therapy in this case.
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000097:blood; D000756:Anemia, Sideroblastic / Q000097:blood / Q000151:congenital* / Q000188:drug therapy; D004900:Erythroblasts / Q000201:enzymology; D005260:Female; D006098:Granulocytes / Q000201:enzymology; D006801:Humans; D007223:Infant; D008928:Mitochondria / Q000201:enzymology; D010447:Peptide Hydrolases / Q000097:blood; D011732:Pyridoxal Phosphate / Q000627:therapeutic use
chemical_list: D011732:Pyridoxal Phosphate; D000624:5-Aminolevulinate Synthetase; D010447:Peptide Hydrolases