[Acquired, vitamin B6-responsive, primary sideroblastic anemia, an enzyme deficiency in heme synthesis].

Abstract

The activity of delta-aminolevulinic acid synthetase (ALAS), the rate-limiting enzyme in heme synthesis, has been found to be markedly reduced (13% of controls) in erythroblasts of a patient with acquired, primary sideroblastic anemia. Administration of vitamin B6 (pyridoxin, 200-600 mg/d) resulted in complete reconstitution of erythroblastic ALAS-activity with concomitant disappearance of all hematologic abnormalities. The findings show that the therapeutic efficacy of pyridoxin in primary sideroblastic anemia is due to its effect on defective ALAS. More generally, the data support the view that almost all features of primary sideroblastic anemia can be ascribed to a disturbance of heme synthesis in erythroblasts.

• Authors: P J Meier, U Giger, O Brändli, J Fehr
• Journal: Schweizerische medizinische Wochenschrift (Schweiz Med Wochenschr) Vol. 111 Issue 41 Pg. 1533-5 (Oct 10 1981) ISSN: 0036-7672 [Print] Switzerland
• Vernacular Title: Erworbene, vitamin-B6-responsive, primäre sideroblastische Anämie, ein Enzymdefekt der Hämsythese.
• PMID: 7313623 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Heme
• 5-Aminolevulinate Synthetase
• Pyridoxine

Topics

• 5-Aminolevulinate Synthetase (deficiency)
• Aged
• Anemia, Sideroblastic (drug therapy, enzymology)
• Heme (biosynthesis)
• Humans
• Male
• Pyridoxine (therapeutic use)