Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population

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Asgari Arezou; Rouhi Dehnabeh Soghra; ZARGARI MEHRYAR; KHANI SOGHRA; MOZAFARI HADI; VARASTEH ABDOLREZA; KEYFI FATEMEH; Barzegari Mina; Hasanzaeh Rayhaneh; KHATAMI SHOHREH

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2016 | Volume:19 | Issue:11 Page(s): 774-778

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Title

Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population

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Keywords

Biotinidase deficiency

BTD mutations

Iranian population

Abstract

BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive disorder of biotin metabolism. Biotin is a coenzyme that enhances the action of the four enzymes that play an important role in carbohydrates, amino acid, and fatty acid metabolism. Defects in these pathways cause severe metabolic disorder in the body. In general, Biotinidase deficiency can be classified into two levels: partial and profound. The incidence of BTD is 1: 40, 000 to 1: 60, 000 births in the world, even though no convincing statistical data on the prevalence of this disorder exist in Iran. In this study, we aimed to set up a test for determining biotinidase activity among the Iranian population and report BTD mutations. PATIENTS AND METHODS: The quantitative method for the determination of biotinidase activity was set up in the National Biochemistry Reference Laboratory (NBRL) of Pasteur Institute of Iran in Tehran. To detect mutations in BTD, polymerase chain reaction (PCR) was performed followed by DNA sequencing. RESULTS: The biotinidase activity range values were 3. 81 – 8. 25 nmol/min/mL. We identified 8 BTD patients out of 47 cases with neurologic signs. We detected two mutations, c. 98-104del7ins3 and p. Arg79Cys, in 5 patients with profound BTD, and one p. Asp444His mutation in 3 patients with partial BTD. CONCLUSION: Infants suffering from BTD seem healthy during their first months of life. At present, the screening program for metabolic disorders such as BTD is in progress. The patients that are BTD deficient benefit from the availability of the tests, and consequently receive the Biotin supplements before being clinically affected.

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APA: Copy

Asgari, Arezou, Rouhi Dehnabeh, Soghra, ZARGARI, MEHRYAR, KHANI, SOGHRA, MOZAFARI, HADI, VARASTEH, ABDOLREZA, KEYFI, FATEMEH, Barzegari, Mina, Hasanzaeh, Rayhaneh, & KHATAMI, SHOHREH. (2016). Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ARCHIVES OF IRANIAN MEDICINE, 19(11), 774-778. SID. https://sid.ir/paper/281734/en

Vancouver: Copy

Asgari Arezou, Rouhi Dehnabeh Soghra, ZARGARI MEHRYAR, KHANI SOGHRA, MOZAFARI HADI, VARASTEH ABDOLREZA, KEYFI FATEMEH, Barzegari Mina, Hasanzaeh Rayhaneh, KHATAMI SHOHREH. Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2016;19(11):774-778. Available from: https://sid.ir/paper/281734/en

IEEE: Copy

Arezou Asgari, Soghra Rouhi Dehnabeh, MEHRYAR ZARGARI, SOGHRA KHANI, HADI MOZAFARI, ABDOLREZA VARASTEH, FATEMEH KEYFI, Mina Barzegari, Rayhaneh Hasanzaeh, and SHOHREH KHATAMI, “Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population,” ARCHIVES OF IRANIAN MEDICINE, vol. 19, no. 11, pp. 774–778, 2016, [Online]. Available: https://sid.ir/paper/281734/en

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