کمبود بیوتینیداز،یک بیماری نورومتابولیک برگشت پذیر(بررسی یک گروه کودکان ایرانی)

کریم زاده, پروانه and احمدآبادی, فرزاد and چعفری, نرگس and جبداری, ساینا and علائی, محمد رضا and غفرانی, محمد and تفدیری, محمد مهدی and تنکابنی, سید حسن (1392) کمبود بیوتینیداز،یک بیماری نورومتابولیک برگشت پذیر(بررسی یک گروه کودکان ایرانی). Iranian Journal of Child Neurology ــ 7 (4). pp. 47-52. شاپا 1735-4668

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Official URL: http://journals.sbmu.ac.ir/index.php/ijcn/article/...


Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series

English Abstract

How to Cite This Article: Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, Taghdiri MM, Tonekaboni SH. Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series). Iran J Child Neurol. 2013 Autumn; 7(4):47- 52. 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 developmentaldelay 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.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده :فرزاد احمدآبادی
نویسنده مسئول :نرگس چعفری
نگارنده :ساینا جبداری
نویسنده :محمد رضا علائی
نویسنده :محمد غفرانی
نویسنده :محمد مهدی تفدیری
نویسنده :سید حسن تنکابنی
Additional Information:Indexed in: PubMed/Pubmed Central , EMBASE , Scopus , ISC(Islamic World Science Citation Center) , CABI(Bibliographic database) , IMEMR (Index Medicus for Eastern Mediterranean Region) , Index Copernicus EBSCO (CINAHL) , Proquest (CSA: In Neuroscience Database) , DOAJ , Google scholar
Uncontrolled Keywords:کمبود بیوتیننیداز ، نورومتابولیک ، کودکان
کلیدواژه ها (انگلیسی):Biotinidase deficiency , neurometabolic , pediatrics
Subjects:WD Nutrition Disease and metabolic diseases
WL Nervous system
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:5908
Deposited By: Dr Farzad Ahmadabadi
Deposited On:08 Jun 1393 04:08
Last Modified:08 Jun 1393 04:08

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