Introduction to biotinase deficiency

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. It is high in animal liver, soybean, egg yolk, fresh milk and yeast. It is rarely found in food, vegetables, fruits and meat. The physiological functions and metabolic biotin of biotin are coenzymes of mitochondrial propionyl-CoA carboxylase, pyruvyl carboxylase, acetyl-CoA carboxylase and methyl crotonyl-CoA carboxylase, as carboxylation, decarboxylation and The cofactors of the dehydrogenase enzymes are involved in the metabolism of the three major nutrients of carbohydrates, proteins and fats. 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 deficiency is dominated by damage to the skin, mucous membranes and nervous system. In the general population, long-term biotin deficiency can cause damage to hair, nails, and skin, such as: eczema, hair loss, dry skin, peeling, angular cheilitis, mouth ulcers, glossitis, conjunctivitis, keratitis, peritonitis, silver Psoriasis, severely caused by loss of appetite, limb weakness, paralysis, ataxia, convulsions, depression, demyelinating lesions, optic atrophy, visual hearing loss and other neuropsychiatric damage. Biotin deficiency can also cause a decrease in cellular immunity and humoral immune function, and patients often have Candida and bacterial infections. The treatment and prognosis of biotin deficiency biotin supplementation therapy is effective for patients with biotin deficiency. The general dose is 5-40 mg/d. After a few days, the abnormal metabolites of urine disappear and the systemic condition is obviously 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 cause 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 carried out high-risk screening of this disease by gas chromatography-mass spectrometry urine organic acid and tandem mass spectrometry blood ester acyl carnitine spectrum analysis technology. Read more...