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Review
. 2019 Dec 9;8(12):1598.
doi: 10.3390/cells8121598.

Genetic Disorders Associated with Metal Metabolism

Muhammad Umair  1 , Majid Alfadhel  1   2
Affiliations
Review

Genetic Disorders Associated with Metal Metabolism

Muhammad Umair et al. Cells. .

Abstract

Genetic disorders associated with metal metabolism form a large group of disorders and mostly result from defects in the proteins/enzymes involved in nutrient metabolism and energy production. These defects can affect different metabolic pathways and cause mild to severe disorders related to metal metabolism. Some disorders have moderate to severe clinical consequences. In severe cases, these elements accumulate in different tissues and organs, particularly the brain. As they are toxic and interfere with normal biological functions, the severity of the disorder increases. However, the human body requires a very small amount of these elements, and a deficiency of or increase in these elements can cause different genetic disorders to occur. Some of the metals discussed in the present review are copper, iron, manganese, zinc, and selenium. These elements may play a key role in the pathology and physiology of the nervous system.

Keywords: copper; genetic disorders; iron; manganese; metal metabolism; selenium; zinc.

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Conflict of interest statement

The authors have no conflicts of interest.

Figures

Figure 1
Figure 1
A schematic representation of zinc deficiency as compared to zinc intoxication.
Figure 2
Figure 2
SLC39A family members (zinc/iron-regulated transporter-like protein (ZIP) transporters) and their role at the cellular level. Zn transporters belong to the SLC30A family. These cause different disorders in humans.
Figure 3
Figure 3
Iron metabolism at the cellular level and its regulation. TfR: Transferrin receptor; IRE: Iron-responsive element; RME: Receptor-mediated endocytosis; E: Endosome; ISCM: Iron–sulphur cluster machinery; Ff: Transferrin; IRP: Iron-responsive protein; FeS: Iron–sulphur cluster; XS: Unknown sulphur transporter; CIAM: Cytosolic iron–sulphur cluster assembly machinery; PCBP: Poly (rC) binding protein.
See this image and copyright information in PMC

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