Aminolevulinic acid synthetase deficiency

The most common cause of iron overload is thalassemia, particularly in the parts of the world where it is prevalent (see earlier section). Indeed, the cardiac complications of iron overload are among the most common causes of death in I-thalassemia major. Sideroblastic anemias are a group of iron-loading disorders, many of which are of unknown cause. In a hereditary type of this disorder, there is deficiency of erythroid specific 5-aminolevulinic acid synthetase in RBC precursors because of mutations involving the X-linked gene that encodes this enzyme. Iron storage is common in patients with congenital dyserythropoietic anemia and may be found in patients with red cell enzyme deficiencies, particularly pyruvate kinase deficiency. ... 

Alkyldihydroxyacetonephosphate synthase deficiency 2-Aminoadipate aminotransferase deficiency 2-Aminoadipic semialdehyde synthetase deficiency -Aminolevulinic acid dehydratase deficiency 2-Amino-/2-oxoadipic aciduria Amylo-l,6-glucosidase deficiency Amylopectinosis Andersen disease Androgen Insensitivity syndrome Apolipoprotein A-I deficiency Apolipoprotein B-lOO deficiency Apolipoprotein C-II deficiency... 

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