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Which disease is caused due to the deficiency of manganese?: A Look into This Rare Condition

4 min read

According to the National Institutes of Health, a clinical manganese deficiency resulting solely from diet has not been documented in healthy individuals. However, specific health issues or genetic disorders can lead to low manganese levels, raising the question: which disease is caused due to the deficiency of manganese and what are its potential consequences?.

Quick Summary

Manganese deficiency, a rare condition, can be caused by genetic or medical factors. While most people get enough manganese from food, low levels can lead to metabolic disturbances, impaired bone development, and reproductive issues.

Key Points

  • Manganese is a Rare Deficiency: Clinical manganese deficiency caused purely by diet is exceptionally rare in healthy individuals due to its widespread availability in food and the body's efficient regulation.

  • Metabolic Disturbances: A deficiency can impair enzymes involved in carbohydrate and fat metabolism, potentially leading to impaired glucose tolerance or fluctuations in blood sugar.

  • Bone and Skeletal Development: Manganese is critical for bone and cartilage formation; a lack can cause bone demineralization, abnormal skeletal growth, and increase the risk of osteoporosis.

  • Reproductive Problems: Studies suggest a link between manganese deficiency and reproductive issues, including disrupted ovulation in women and poor sperm quality in males.

  • Genetic Link to Disease: The clearest cases of manganese deficiency causing disease are linked to rare genetic mutations, such as in the SLC39A8 gene, which can cause severe neurological and developmental problems.

  • Toxicity is More Common: Unlike deficiency, manganese toxicity is a more frequently observed problem, especially from inhaling dust in occupational settings, and can lead to severe neurodegeneration.

  • Dietary Sources are Key: The best way to prevent deficiency is to consume a balanced diet that includes manganese-rich foods like whole grains, nuts, seeds, and leafy green vegetables.

In This Article

What is Manganese?

Manganese is a trace mineral, meaning the human body needs it in very small amounts to function properly. Despite its low requirement, it is an essential nutrient that plays a pivotal role as a cofactor for many enzymes. These enzymes are involved in critical biological processes, including carbohydrate, amino acid, and cholesterol metabolism; bone formation; antioxidant defense; and reproductive function. The body stores most of its manganese in the bone, liver, kidneys, and pancreas.

The Rarity of Dietary Manganese Deficiency

For the general population, getting enough manganese from diet is typically not an issue. The mineral is widely available in plant-based foods, and the body has a robust system for regulating its absorption. When dietary intake is low, the body's absorption becomes more efficient to compensate. This homeostatic control is why manganese deficiency in healthy people is so rare. The concern, however, shifts to individuals with compromised health or specific genetic predispositions.

Which Disease is Caused Due to the Deficiency of Manganese?

While a single disease isn't exclusively caused by low manganese, a deficiency can contribute to or exacerbate several health problems. Most evidence comes from severe, induced deficiencies in animal models or from rare human cases involving genetic disorders or long-term parenteral nutrition.

Potential health implications of manganese deficiency include:

  • Metabolic Disorders: Manganese is crucial for activating enzymes that regulate the metabolism of carbohydrates, fats, and cholesterol. A deficiency can impair these processes, potentially leading to impaired glucose tolerance, a pre-diabetic state. Some studies have suggested a link between low manganese levels and type 2 diabetes, though the connection remains unclear and requires more research.
  • Bone and Skeletal Abnormalities: As a cofactor for enzymes essential for cartilage and bone formation, insufficient manganese can hinder proper skeletal development. Animal studies show that manganese deficiency can result in poor bone growth, demineralization, and skeletal defects such as enlarged joints and a curved spine. In humans, a child on long-term intravenous feeding without manganese developed bone demineralization and stunted growth that improved with supplementation.
  • Reproductive Issues: Animal research has demonstrated that low manganese intake can lead to reproductive problems. A study using data from the BioCycle Study found that low dietary manganese in women was associated with an increased risk for sporadic anovulation, a disruption of the menstrual cycle. In male animals, deficiency has caused testicular degeneration and impaired sperm quality.
  • Skin and Connective Tissue Problems: Manganese is necessary for synthesizing collagen, a key component of skin and connective tissues. Reports from limited human studies and animal models suggest that low levels can lead to skin rashes and impaired wound healing.
  • Neurological Dysfunction: Manganese plays a role in neurotransmitter synthesis. A deficiency can manifest in neurological symptoms, such as altered mood, irritability, and potentially, in rare cases, an increased susceptibility to seizures.

Genetic Disorders of Manganese Metabolism

Perhaps the clearest evidence of disease resulting from manganese deficiency comes from inherited conditions affecting manganese transporters. For example, mutations in the SLC39A8 gene, which helps transport manganese into cells, can cause a deficiency syndrome.

Symptoms of SLC39A8 deficiency include:

  • Neurodevelopmental delay
  • Seizures
  • Dystonia (involuntary muscle contractions)
  • Short stature
  • Congenital disorder of glycosylation (due to manganese's role as an enzyme cofactor in glycosylation)

In these specific genetic cases, manganese supplementation can often improve clinical symptoms and normalize biochemical findings.

What is the Difference Between Deficiency and Toxicity?

While deficiency is rare, manganese toxicity is a more common concern, particularly in occupational settings or from high-dose supplementation. It is important to understand the contrasting effects.

Feature Manganese Deficiency (Rare) Manganese Toxicity (More Common)
Cause Primarily from rare genetic mutations or medical conditions affecting absorption; very rarely from diet. Long-term exposure to inhaled manganese dust (e.g., welders) or high-dose supplementation.
Key Effect Impaired enzyme function leading to metabolic disturbances, poor bone development, and reproductive issues. Neurodegeneration and neurological damage, sometimes called manganism.
Neurological Symptoms Mood changes, cognitive issues, and increased risk of seizures in genetic cases. Parkinson's-like symptoms, including tremors, difficulty walking, and muscle spasms, as well as aggression and psychiatric issues.
Impact Stunted growth, metabolic disruption, skin rashes, and reproductive problems. Can lead to irreversible nerve damage if left untreated.

Conclusion

While a severe dietary manganese deficiency is exceptionally uncommon in healthy individuals, its role as a cofactor for numerous vital enzymes means that insufficient levels can lead to a cascade of problems. These range from metabolic dysfunction and poor bone formation to reproductive issues and neurological symptoms, especially in cases with underlying genetic mutations or medical conditions affecting nutrient absorption. Maintaining adequate manganese status is important, but for most people, this is achieved through a balanced diet rich in whole grains, nuts, and leafy greens. For those with specific risk factors, consulting a healthcare professional for diagnosis and potential supplementation is crucial to prevent the health complications associated with low manganese levels. For more information, the National Institutes of Health provides a comprehensive resource on manganese health facts(https://ods.od.nih.gov/factsheets/Manganese-HealthProfessional/).

Frequently Asked Questions

There is no single primary disease exclusively caused by manganese deficiency. Instead, a deficiency can contribute to or worsen several health issues, including metabolic disturbances, bone and skeletal defects, and reproductive problems.

Manganese deficiency is very rare in the general population. The human body requires only small amounts of manganese and is adept at absorbing it from the diet, making severe dietary deficiency unlikely in healthy people.

Yes, manganese is a cofactor for enzymes essential for forming cartilage and bone. In animals, a deficiency can cause skeletal defects, and in humans, low levels have been linked to bone demineralization and osteoporosis in some studies.

Manganese-activated enzymes are involved in the metabolism of carbohydrates and fats. A deficiency can lead to metabolic issues such as impaired glucose tolerance, which is a state of high blood sugar.

Animal studies have shown that a lack of manganese can cause reproductive dysfunction. Limited human research suggests a possible link to irregular ovulation in women, while studies on male animals indicate impacts on sperm quality.

Symptoms are not well-established but may include impaired growth, poor bone development, skin rashes, altered mood, and, in severe cases, impaired glucose tolerance and reproductive problems.

Diagnosing manganese deficiency can be challenging due to its rarity and limited standardized testing methods. Diagnosis typically relies on a combination of evaluating clinical symptoms, dietary history, and sometimes blood or hair analysis, interpreted by a healthcare professional.

References

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Medical Disclaimer

This content is for informational purposes only and should not replace professional medical advice.