BIOTINIDASE DEFICIENCY PRESENTING WITH DERMAL MANIFESTATIONS OF ACRODERMATITIS ENTROPATHICA

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FALAH R.

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Journal Paper

Paper Information

Journal: Journal of Shahid Sadoughi University of Medical Sciences Year:2005 | Volume:13 | Issue:3 Page(s): 14-14

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Information Journal Paper

Title

BIOTINIDASE DEFICIENCY PRESENTING WITH DERMAL MANIFESTATIONS OF ACRODERMATITIS ENTROPATHICA

Author(s)

FALAH R. | Issue Writer Certificate

Keywords

BIOTIN

BIOTINIDASE DEFICIENCY

ACRODERMATITIS ENTHROPATHICA

REFRACTORY SEIZURE

Abstract

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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APA: Copy

FALAH, R.. (2005). BIOTINIDASE DEFICIENCY PRESENTING WITH DERMAL MANIFESTATIONS OF ACRODERMATITIS ENTROPATHICA. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, 13(3), 14-14. SID. https://sid.ir/paper/539830/en

Vancouver: Copy

FALAH R.. BIOTINIDASE DEFICIENCY PRESENTING WITH DERMAL MANIFESTATIONS OF ACRODERMATITIS ENTROPATHICA. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2005;13(3):14-14. Available from: https://sid.ir/paper/539830/en

IEEE: Copy

R. FALAH, “BIOTINIDASE DEFICIENCY PRESENTING WITH DERMAL MANIFESTATIONS OF ACRODERMATITIS ENTROPATHICA,” JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, vol. 13, no. 3, pp. 14–14, 2005, [Online]. Available: https://sid.ir/paper/539830/en

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