Biotinidase Deficiency as a Regional Problem and Solution Suggestions

Abstract

Biotinidase enzyme is the enzyme that activates biotin, which is the cofactor of 4-carboxylase enzymes in our body. After its deficiency began to be treated in 1971, it was screened in the 1980 s. A local newborn study was conducted in our country under the leadership of the Istanbul Faculty of Medicine between 1991 and 2005, and the first data were obtained. As a result of this study, it was shown that biotinidase deficiency, which is known to occur in one in 60,000 people worldwide, is seen at a frequency of one in 11,000. Biotinidase newborn screening was added to the national screening program in our country in 2012, with a reported frequency of one in 5500. National screening data supported Istanbul University, revealing that the most common region was Northeastern Anatolia, with the provinces having the highest number of patients being Ardahan, Kars, and Iğdır. The number of centers that can perform metabolic follow-up of diagnosed patients in the region is insufficient. It was decided to write this article to highlight the need to establish a “Biotinidase Deficiency Research Institute” affiliated with Kafkas University in Kars, one of the provinces with the highest incidence of patients, to provide an on-site solution to the problem.

Keywords

• biotinidase deficiency
• newborn screening
• hereditary deafness
• hereditary blindness; demyelinating diseases; alopecia; sudden infant death syndrome; genetic diseases

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