Volume 13, Issue 3 (Summer 2005)
JSSU 2005, 13(3): 73-77 |
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Fallah R. Biotinidase Deficiency Presenting with Dermal Manifestations of Acrodermatitis Entropathica. JSSU 2005; 13 (3) :73-77
URL: http://jssu.ssu.ac.ir/article-1-740-en.html
URL: http://jssu.ssu.ac.ir/article-1-740-en.html
Abstract: (8937 Views)
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 impairment and immunodeficiency. With early diagnosis and treatment with biotin supplements, it is possible to prevent clinical manifestations and neurological deficits.
We report a case of biotinidase deficiency with seizures, developmental delay, acrodermatitis enthropathica manifestations and mild compensated acidosis.
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