BONE-MARROW DELTA-AMINOLEVULINATE SYNTHASE DEFICIENCY IN A FEMALE WITH CONGENITAL SIDEROBLASTIC ANEMIA

  • 1 January 1980
    • journal article
    • research article
    • Vol. 55  (1) , 109-115
Abstract
Heme biosynthesis was examined in erythroid tissue of a 4-yr-old girl with severe sideroblastic anemia since infancy, as documented by the presence of intramitochondrial deposits of Fe in erythroblasts. Free red cell protoporphyrin, urinary porphyrins and activities of erythrocyte porphobilinogen synthase, uroporphyrinogen I synthase, aspartate aminotransferase and pyridoxine kinase were normal or increased. Bone marrow ferrochelatase activity was normal. Activity of bone marrow .delta.-aminolevulinate (ALA) synthase was markedly reduced to 7 pmol ALA/106 erythroblasts per 30 min (normal 127 .+-. 29) but was enhanced 5-fold by pyridoxal phosphate (normal 0%-25% increase). Therapy with oral pyridoxine and parenteral pyridoxal-5''-phosphate did not increase effective red cell production. Sideroblastic anemia in this patient appeared related to a congenital defect in the initial step of heme biosynthesis.