Ferrochelatase deficiency in an infant with anemia and growth delay.
A 5-month-old infant with hypochromic anemia and iron overload secondary to ferrochelatase (heme synthetase) deficiency is described. Decreased activity of iron-containing enzymes in the absence of any other proven cause is suggested as the main cause of the associated growth retardation.
D000747:Anemia, Hypochromic / Q000209:etiology*; D006130:Growth Disorders / Q000209:etiology*; D006418:Heme / Q000096:biosynthesis; D006486:Hemosiderosis / Q000209:etiology*; D006801:Humans; D007223:Infant; D008190:Lyases / Q000172:deficiency*; D008297:Male; D046351:Protoporphyria, Erythropoietic
D006418:Heme; D008190:Lyases