A xanthine Byvtynydaz normally inside the body responsible for recycling biotin attached to proteins (mostly enzymes carboxylase) is. Biotin as a cofactor in the protein structure from the amino acid lysine in the protein binds to them. Isolation of lysine deficiency in biotin enzyme reaction Byvtynydaz Byvtynydaz an inherited disorder in which the body's inability to absorb vitamin biotin and reuse are identified. The B vitamins are essential for metabolism and digestion of food in the body. Family member biotin vitamin helps the body to metabolize fat and proteins.
Byvtynydaz enzyme deficiency disease lack the enzyme Byvtynydaz or malfunction occurs. The disease is classified in Category Disorders Multiple carboxylase. Biotin skin cancer as a cofactor skin cancer for the activation of the carboxylase enzyme is essential for the body, so after attaching biotin to a lysine in the enzyme carboxylase (Pvkrbvksylaz), the enzyme is activated. (Hvlvkrbvksylaz)
Carboxylase enzymes in the body break down when products are Biocytin Byvtynyl - lysine is produced. Byvtynyl - Byvtynydaz lysine by the enzyme, hydrolysis and release of biotin carboxylase enzyme catalysis that can not be made available again. skin cancer So Byvtynydaz deficient patients, which reduces the loss of body biotin skin cancer deficiency can be carboxylase enzyme activity. The problems in gluconeogenesis, fatty acids and catabolism of amino acids (due to their role in carboxylase) is provided.
Babies with birth defects in Byvtynydaz healthy look. Onset of signs and symptoms of biotin deficiency depending on the amount received and the amount of enzyme activity may Byvtynydaz birth in a few weeks or a few months after birth can vary, but usually in 3 to 6 months after onset of symptoms. Depending on the enzyme activity Byvtynydaz two serious flaws and defects in the relative form of the disease occurs.
Clinical signs of the disease varies, and depends on the enzyme activity in patients Byvtynydaz. People with severe forms of the disease if left untreated, often symptoms such as skin rashes, muscle Drhrkat disturbances, muscle weakness, delayed development, conjunctivitis, alopecia, seizures, breathing difficulties, visual impairment and mental retardation will. The following symptoms may be acute, severe metabolic acidosis, organic Asydvry which sometimes can lead to coma and death in patients.
Byvtynydaz deficiency disease in the early days of the birth, the infant was diagnosed with the disease. This disease is both severe and relatively increased levels of beta-hydroxy-MS / MS or TMS is identifiable. Blood samples were examined by the technique of 5 - hydroxy methyl citrate, carnitine and C, Ayzvvalrat, lactate, beta-methyl Krvtvnyl glycine, beta-hydroxy propionate is. The biotin metabolites by 4 enzyme activity for their needs, are made. To confirm the screening results can Byvtynydaz skin cancer enzyme activity in serum (by colorimetric method or Flvrvmtry) and the mutation can be assessed. DTB)) Byvtynydaz enzyme gene contains 4 exons of the gene Byvtynydaz. More than 100 mutations have been identified in this gene mutations that lead to defects H654Q.p C835R.p, 3sni7led39G, are Byvtynydaz. Mutations in the 5 jointly create more than 06 percent of cases. H444D: T171A.p duplex alone caused skin cancer relatively mild form of the disease, if this mutation is associated with mutations H444D.p mutations can cause a severe form of the disease.
Byvtynydaz illness in food and restores the ability of biotin biotin Randarnd body. Treatment of patients with oral biotin which can help prevent the onset of symptoms. Mbtlayany that early detection and treatment, they will have grown quite normal and healthy.
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