Clinical and laboratory characteristics of biotinidase deficiency and the effectiveness of a specialized dietary supplement «Biotin Vitamin Complex»
https://doi.org/10.25557/2073-7998.2023.07.39-50
Abstract
Biotinidase deficiency is a hereditary disease associated with mutations in the gene encoding biotinidase and accompanied by neurological (epileptic seizures, muscle weakness, psychomotor retardation) and metabolic (metabolic acidosis, increased excretion of organic acids in the urine) defects. The diagnosis is made based on clinical and laboratory findings.
Timely administration of high doses of biotin compensates for its deficiency, restores the function of biotin-dependent carboxylases, and alleviates clinical symptoms of the disease.
This article presents the results of the therapeutic application of a specialized dietary supplement «Biotin Vitamin Complex» in patients with biotinidase deficiency.
About the Authors
S. V. Mikhailova
Russian National Medical Research University named after N.I. Pyrogov; Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Russian Federation
117, Leninsky Prospect, Moscow, 119571
1, Moskvorechye st., Moscow, 115522
G. V. Baydakova
Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
P. V. Baranova
Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
M. V. Zazhivikhina
Russian National Medical Research University named after N.I. Pyrogov
Russian Federation
Russian Federation
117, Leninsky Prospect, Moscow, 119571
N. A. Votyakova
Russian National Medical Research University named after N.I. Pyrogov
Russian Federation
Russian Federation
117, Leninsky Prospect, Moscow, 119571
M. E. Abdullina
Russian National Medical Research University named after N.I. Pyrogov
Russian Federation
Russian Federation
117, Leninsky Prospect, Moscow, 119571
E. Yu. Zakharova
Research Centre for Medical Genetics n.a. N.P. Bochkov
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
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For citations:
Mikhailova S.V., Baydakova G.V., Baranova P.V., Zazhivikhina M.V., Votyakova N.A., Abdullina M.E., Zakharova E.Yu. Clinical and laboratory characteristics of biotinidase deficiency and the effectiveness of a specialized dietary supplement «Biotin Vitamin Complex». Medical Genetics. 2023;22(7):39-50. (In Russ.) https://doi.org/10.25557/2073-7998.2023.07.39-50
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