Inherited disorders of iron metabolism

Inherited Disorders of Intermediary Metabolism

■ Abstract This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes fro...

Iron Metabolism & Its Disorders

ciency or ferroportin Q248H had lower circulating tumor necrosis factor-α concentrations than iron-replete children with WT ferroportin, led us to hypothesize that ferroportin Q248H has reduced sensitivity to hepcidin but that this property would be observed at lower concentrations of hepcidin than those used in previous studies. Here, we analyzed the sensitivity of ferroportin Q248H to hepcidi...

Evaluation and management of inherited disorders of surfactant metabolism.

OBJECTIVE To review the pathophysiology, evaluation, management, and outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C (SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1). DATA SOURCES Review of the literature, previous work from the author's and collaborators'...

Disorders of iron metabolism. Part II: iron deficiency and iron overload.

MAIN DISORDERS OF IRON METABOLISM: Increased iron requirements, limited external supply, and increased blood loss may lead to iron deficiency (ID) and iron deficiency anaemia. In chronic inflammation, the excess of hepcidin decreases iron absorption and prevents iron recycling, resulting in hypoferraemia and iron restricted erythropoiesis, despite normal iron stores (functional iron deficiency)...

Our Current Knowledge of Iron Metabolism and Related Disorders