Deficiency of iodide peroxidase

Common Name(s)

Deficiency of iodide peroxidase

Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes ({28:Vono-Toniolo et al., 2005}). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency ({21:Park and Chatterjee, 2005}). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration ({4:Bakker et al., 2000}). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; {188450}) to form iodotyrosine.
 

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Condition Specific Organizations

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Scientific Literature

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