Article
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018
Park Julien H, Hogrebe Max, Fobker Manfred, Brackmann Renate, Fiedler Barbara, Reunert Janine, Rust Stephan, Tsiakas Konstantinos, Santer René, Grüneberg Marianne, Marquardt Thorsten
Abstract excerpt
PurposeSLC39A8 deficiency is a severe inborn error of metabolism that is caused by impaired function of manganese metabolism in humans. Mutations in SLC39A8 lead to impaired function of the manganese transporter ZIP8 and thus manganese deficiency. Due to the important role of Mn2+ as a cofactor for a variety of enzymes, the resulting phenotype is complex and severe. The manganese-dependence of...
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