Decreased ATP production
Involvement of A alone: Sideroblastic anemia without mitochondrial cytopathy Involvement of B alone: Mitochondrial cytopathies without sideroblastic anemia Involvement of A and B: Sideroblastic anemias with mitochondrial cytopathies, e.g., Pearson syndrome, Pearson syndrome with Kearns-Sayre syndrome, Wolfram syndrome Fig. 6-2. Simplified view of pathophysiologic consequences of mitochondrial diseases.
2. Removal of the reactive oxygen radical by the use of ascorbate, vitamin E, or lipoic acid.
3. The diagnosis of anemia occurs between 1 and 6 months in the majority of patients. Patients can be supported with red cell transfusions. G-CSF may be used to support clinically significant neutropenia. If patients do not succumb to metabolic acidosis and organ failure, the majority will improve within the first decade of life.
4. Patients who survive and have resolution of their anemia are at risk of developing Kearns-Sayre syndrome.
5. No experience exists with HSCT or solid organ transplantation.
Note that the efficacy of therapies 1 and 2 listed above is not clear at this time.
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