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Selenoprotein Deficiency: Causes, Symptoms & Treatment

Selenoprotein deficiency occurs when selenium intake is insufficient, impairing vital protective proteins in the body. Learn about causes, symptoms, and treatment options.

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Things worth knowing about "Selenoprotein Deficiency"

Selenoprotein deficiency occurs when selenium intake is insufficient, impairing vital protective proteins in the body. Learn about causes, symptoms, and treatment options.

What is Selenoprotein Deficiency?

Selenoproteins are a unique group of proteins that incorporate the trace element selenium in the form of the amino acid selenocysteine. They perform essential roles in the human body, including protection against oxidative stress, regulation of thyroid hormone metabolism, and support of the immune system. Selenoprotein deficiency occurs when the biosynthesis of these proteins is impaired due to inadequate selenium intake or genetic disorders.

Causes

The most common causes of selenoprotein deficiency include:

Dietary selenium deficiency: Soils in certain regions (e.g., parts of Europe, China, and New Zealand) are low in selenium, resulting in selenium-poor foods.
Malabsorption syndromes: Conditions such as Crohn's disease, celiac disease, or short bowel syndrome can reduce selenium absorption in the intestine.
Parenteral nutrition: Long-term artificial nutrition without adequate selenium supplementation.
Genetic defects: Rare mutations in genes required for selenoprotein biosynthesis or selenium transport (e.g., mutations in the SECISBP2 gene).
Renal insufficiency and dialysis: Increased selenium loss through dialysis procedures.

Symptoms

Because selenoproteins are active across many body systems, a deficiency can cause a wide range of symptoms:

Muscle weakness and myopathy: Pain and weakness of the skeletal muscles.
Cardiomyopathy: Disease of the heart muscle, known in extreme deficiency as Keshan disease.
Thyroid dysfunction: Since selenoproteins (e.g., deiodinase enzymes) are required for thyroid hormone activation, deficiency can contribute to hypothyroidism.
Immune deficiency: Increased susceptibility to infections due to reduced antioxidant defense.
Neurological symptoms: In genetically determined selenoprotein deficiency, developmental delays, muscular dystrophy, or progressive ataxia may occur.
Skin and hair changes: Alterations in skin, nail, and hair structure.

Diagnosis

Diagnosis of selenoprotein deficiency involves several steps:

Blood selenium measurement: Measuring selenium levels in whole blood or serum.
Selenoprotein P levels: Selenoprotein P is considered a reliable biomarker for overall selenium status in the body.
GPx activity: Measurement of the activity of glutathione peroxidase (GPx), an important selenoprotein with antioxidant function.
Genetic testing: If a hereditary cause is suspected, molecular genetic investigations can be performed.
Clinical assessment: Medical history, physical examination, and laboratory and imaging studies to evaluate affected organs.

Treatment

Treatment depends on the underlying cause and severity of the deficiency:

Dietary Adjustment and Supplementation

In cases of dietary deficiency, selenium intake is increased through selenium-rich foods such as Brazil nuts, fish, meat, and legumes. The recommended daily intake for adults according to international guidelines is approximately 55–70 micrograms per day.

Selenium Supplementation

In clinically relevant deficiency, selenium can be supplemented in the form of sodium selenite or selenomethionine. Dosage should be medically supervised, as overdose (selenosis) can be toxic.

Treatment of the Underlying Condition

In cases of malabsorption or other underlying diseases, treatment of the primary condition is the main priority.

Genetically Determined Selenoprotein Deficiency

Genetic defects in selenoprotein biosynthesis require specialized, individually tailored therapeutic approaches, managed at dedicated centers.

References

Schomburg, L. (2012): Selenium, selenoproteins and the thyroid gland. In: Nature Reviews Endocrinology, 8(3):160–171. DOI: 10.1038/nrendo.2011.174
World Health Organization (WHO): Trace Elements in Human Nutrition and Health. Geneva: WHO Press, 1996.
Dumitrescu, A.M. & Refetoff, S. (2011): Inherited defects of thyroid hormone metabolism. In: Annals of Endocrinology, 72(2):95–98. DOI: 10.1016/j.ando.2011.03.013

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