Introduction
Biotin, also known as vitamin B8 and vitamin H, is a water-soluble, sulfur-containing vitamin. Like other B vitamins, most of it is taken from food, and a small number of bacteria are synthesized in the body's intestines. Biotin is widely found in natural foods and is high in animal liver, soybean, egg yolk, fresh milk and yeast, and is low in food, vegetables, fruits and meat.
Physiological function and metabolism of biotin
Biotin is a coenzyme of mitochondrial propionyl-CoA carboxylase, pyruvyl carboxylase, acetyl-CoA carboxylase and methyl crotonyl-CoA carboxylase, which is used as an auxiliary for carboxylation, decarboxylation and dehydrogenase enzyme systems. Factors are involved in the metabolism of the three major nutrients of carbohydrates, protein and fat. Biotin deficiency leads to decreased activity of four related carboxylases, mitochondrial energy synthesis disorders, metabolic acidosis, organic aciduria and a series of neurological and cutaneous system damage, and death in severe cases. Biotin is also an important active substance in DNA synthesis, involved in cell repair and regeneration.
Clinical manifestations of biotin deficiency
Biotin deficiencyMainly damaged by skin, mucous membranes and nervous system. In the general population, long-term biotin deficiency may cause hair
Hair, nails, skin damage, such as: eczema, hair loss, dry skin, peeling, angular cheilitis, mouth ulcers, glossitis, conjunctivitis, keratitis, peritonitis, psoriasis, severe appetite loss, limb weakness, Neuropsychiatric damage such as convulsions, ataxia, convulsions, depression, demyelinating lesions, optic atrophy, and decreased visual hearing loss. Biotin deficiency can also cause a decrease in cellular immunity and humoral immune function, and patients often have Candida and bacterial infections.
Treatment and prognosis of biotin deficiency
Biotin supplementation has a good effect on patients with biotin deficiency. The general dose is 5-40 mg/d. After a few days, abnormal urinary metabolites disappear and the systemic condition is significantly improved. Patients with biotin deficiency can return to normal biotin levels after short-term biotin supplementation, diet and lifestyle conditioning. Patients with biotinase deficiency need to replenish biotin for life. For children with severe biotinase deficiency, such as metabolic acidosis or hyperammonemia, it is necessary to limit protein, supplement glucose, and correct acidosis.
The prognosis of children depends on the discovery of morning and evening and long-term treatment. In order to improve the survival rate and quality of life of children, in addition to actively introducing relevant diagnostic and therapeutic techniques, it is necessary to raise awareness and conduct early analysis of the causes of suspicious children. Found, early treatment. In order to fight for pre-disease diagnosis, newborn screening for this disease has been carried out in some countries. Some institutions in China have used the gas chromatography-mass spectrometry urine organic acid and tandem mass spectrometry blood ester acyl carnitine spectrum analysis technology to carry out high-risk screening of this disease. With the popularization of application technology, more and more patients will benefit.
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