[HTML][HTML] SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
JH Park, M Hogrebe, M Fobker, R Brackmann… - Genetics in …, 2018 - Elsevier
Purpose SLC39A8 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 Mn 2+ as a cofactor for a variety of enzymes, the resulting phenotype
is complex and severe. The manganese-dependence of β-1, 4-galactosyltransferases leads
to secondary hypoglycosylation, making SLC39A8 deficiency both a disorder of trace …
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 Mn 2+ as a cofactor for a variety of enzymes, the resulting phenotype
is complex and severe. The manganese-dependence of β-1, 4-galactosyltransferases leads
to secondary hypoglycosylation, making SLC39A8 deficiency both a disorder of trace …