مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

BIOTINIDASE DEFICIENCY: A REVERSIBLE NEUROMETABOLIC DISORDER (AN IRANIAN PEDIATRIC CASE SERIES)

Pages

  47-52

Abstract

 Objective BIOTINIDASE DEFICIENCY is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical DEVELOPMENTAL DELAY and most of clinical manifestations.Materials&Methods The patients were diagnosed as BIOTINIDASE DEFICIENCY in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2009 and 2012 were included in this study. This study was conducted to define the age, gender, past medical history, developmental status, general appearance, clinical manifestations, neuroimaging findings, and response to treatment in 16 patients with BIOTINIDASE DEFICIENCY in this department.Results In clinical presentation, cutaneous lesions were not found in 37% of the patients and 43% patients had not alopecia.75% patients had abnormal neuroimaging that in 56% of them, generalized brain atrophy and myelination delay were found. Results of the present study showed the efficacy of biotin in early diagnosed patients with seizure and dermatological manifestations. The seizure and skin manifestations were improved after biotin therapy.Conclusion According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs.

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    APA: Copy

    KARIMZADEH, PARVANEH, AHMADABADI, FARZAD, JAFARI, NARJES, JABBEHDARI, SAYENA, ALAEE, MOHAMMAD REZA, TAGHDIRI, MOHAMMAD MAHDI, & TONEKABONI, SEYED HASSAN. (2013). BIOTINIDASE DEFICIENCY: A REVERSIBLE NEUROMETABOLIC DISORDER (AN IRANIAN PEDIATRIC CASE SERIES). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 7(4), 47-52. SID. https://sid.ir/paper/303386/en

    Vancouver: Copy

    KARIMZADEH PARVANEH, AHMADABADI FARZAD, JAFARI NARJES, JABBEHDARI SAYENA, ALAEE MOHAMMAD REZA, TAGHDIRI MOHAMMAD MAHDI, TONEKABONI SEYED HASSAN. BIOTINIDASE DEFICIENCY: A REVERSIBLE NEUROMETABOLIC DISORDER (AN IRANIAN PEDIATRIC CASE SERIES). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2013;7(4):47-52. Available from: https://sid.ir/paper/303386/en

    IEEE: Copy

    PARVANEH KARIMZADEH, FARZAD AHMADABADI, NARJES JAFARI, SAYENA JABBEHDARI, MOHAMMAD REZA ALAEE, MOHAMMAD MAHDI TAGHDIRI, and SEYED HASSAN TONEKABONI, “BIOTINIDASE DEFICIENCY: A REVERSIBLE NEUROMETABOLIC DISORDER (AN IRANIAN PEDIATRIC CASE SERIES),” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 7, no. 4, pp. 47–52, 2013, [Online]. Available: https://sid.ir/paper/303386/en

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