5.2

Disorders of trace elements and metals

Disorders of trace elements and metals arise from imbalances in the levels of essential minerals such as copper, iron, manganese, and zinc. These minerals play vital roles in various biological processes, including enzyme activity, immune function, and cellular growth. Clinical presentations can range from mild to severe phenotypes. Treatment often involves dietary changes, supplements, or medications to correct the mineral imbalance.

5.2.a

Disorders of copper metabolism

Copper-transporting ATPase subunit beta deficiency (Wilson disease; hepatolenticular degeneration) Copper-transporting…
5.2.b

Disorders of iron metabolism

Hereditary hemochromatosis type 1 Hemojuvelin deficiency (Hereditary hemochromatosis type 2A)…
5.2.c

Disorders of manganese metabolism

Hypermanganesemia with dystonia type 1 SLC39A14 deficiency (Hyperostosis cranialis interna,…
5.2.d

Disorders of zinc metabolism

Acrodermatitis enteropathica Transient neonatal zinc deficiency Spondylocheirodysplastic Ehlers-Danlos syndrome Birk-Landau-Perez…
5.2.e

Other disorders of trace element metabolism

Selenocysteine insertion sequence-binding protein 2 deficiency O-phosphoseryl-tRNA(Sec) selenium transferase deficiency (Selenocysteinyl-tRNA…

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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