فلاح, راضیه

[ 1 ] - معرفی یک مورد کمبود بیوتینیداز با تظاهرات پوستی مشابه آکرودرماتیت انتروپاتیکا

Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...