RT Book, Section A1 Kaler, Stephen G. A1 Rouault, Tracey A. A2 Kline, Mark W. SR Print(0) ID 1182930443 T1 Disorders of Metal Metabolism T2 Rudolph's Pediatrics, 23e YR 2018 FD 2018 PB McGraw-Hill Education PP New York, NY SN 9781259588594 LK accesspediatrics.mhmedical.com/content.aspx?aid=1182930443 RD 2024/03/29 AB Metals are indispensable elements of cell biology. They function as cofactors in many specific proteins and are involved in all major metabolic pathways. Their metabolism and implications in inborn errors of metabolism are still not fully known, but the number of inherited metabolic disorders involving the absorption, transport, or metabolism of metals is rapidly growing. Clinical presentations are very diverse and can involve all organs and systems, including the liver and the central nervous system. Deficiency in metals results in metabolic abnormalities due mostly to loss of function of metal-dependent proteins. On the other hand, excess of metals can result in the unregulated oxidation of proteins, lipids, and other cellular components, causing subsequent tissue injury. Some inherited metal disorders are treatable by chelating drugs or by daily supplementation of the missing metal at pharmacologic doses. Advances in viral gene therapy augur well for improved management of certain disorders of metal metabolism.