CLINICAL CASE OF BIOTINIDASE DEFICIENCY

Authors

  • M.R. Yunusova Tashkent Medical Academy
  • G.S. Rakhimbaeva Tashkent Medical Academy

Keywords:

Biotinidase deficiency, hereditary disease, neurometabolic disease, nervous system

Abstract

Biotinidase deficiency is an autosomal recessively inherited metabolic disease. If left untreated, patients with biotinidase deficiency typically develop neurological and skin symptoms that can lead to coma and death. This article examined a clinical case of a patient with biotinidase deficiency. The article is aimed at increasing the attention of neurologists to the possible causes of symptomatic epilepsy against the background of a hereditary autosomal recessive metabolic disease - biotinidase deficiency.

Author Biographies

M.R. Yunusova, Tashkent Medical Academy

6th-year student of the 1st Treatment Faculty, Tashkent Medical Academy, Tashkent, Uzbekistan, e-mail:mavzodayunusova@gmail.com

G.S. Rakhimbaeva, Tashkent Medical Academy

Scientific supervisor, Doctor of Medical Sciences, Professor, Head of the Department of Neurology and Medical Psychology, Tashkent Medical Academy, Tashkent, Uzbekistan, e-mail: gulnora.rakhimbaeva@mail.ru

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Published

2023-10-24

How to Cite

Yunusova, M., & Rakhimbaeva, G. (2023). CLINICAL CASE OF BIOTINIDASE DEFICIENCY. JOURNAL OF EDUCATION AND SCIENTIFIC MEDICINE, 2(4), 49-53. Retrieved from https://journals.tma.uz/index.php/jesm/article/view/637