Genetic Disorders Associated with Metal Metabolism
Muhammad Umair1, Majid Alfadhel1,2
1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), P.O Box 3660, Riyadh 11481, Saudi Arabia.
Cells
|December 15, 2019
Summary
Genetic disorders disrupt metal metabolism, affecting nutrient processing and energy. Imbalances in essential metals like copper and iron can lead to severe health issues, particularly impacting the nervous system.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Genetic disorders impacting metal metabolism are a significant group of diseases.
- Defects in proteins/enzymes involved in nutrient metabolism and energy production are primary causes.
- These defects can disrupt various metabolic pathways, leading to disorders with mild to severe clinical consequences.
Purpose of the Study:
- To review genetic disorders associated with the metabolism of essential metals.
- To highlight the role of these metals in both the pathology and physiology of the nervous system.
- To discuss the clinical consequences of metal accumulation or deficiency.
Main Methods:
- Literature review of genetic disorders related to metal metabolism.
- Analysis of the impact of metal imbalances on biological functions.
- Focus on the role of specific metals (copper, iron, manganese, zinc, selenium) in neurological health.
Main Results:
- Defects in metal metabolism proteins/enzymes cause a spectrum of genetic disorders.
- Severe cases involve toxic accumulation of metals in tissues, especially the brain.
- Both deficiency and excess of essential metals can precipitate genetic disorders.
Conclusions:
- Genetic disorders of metal metabolism represent a critical area of human health.
- These disorders underscore the delicate balance required for essential metals in biological systems.
- The nervous system is particularly vulnerable to disruptions in metal homeostasis, with implications for disease pathology.
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