Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series

 

Vol 7, No 4 (2013): Iran J Child Neurol. Autumn 2013 You can see full article in below link:  http://journals.sbmu.ac.ir/index.php/ijcn/article/view/4907/4590  Parvaneh KARIMZADEH, Farzad AHMADABADI, Narjes JAFARI, Sayena JABBEHDARI, Mohammad Reza ALAEE, Mohammad GHOFRANI, Mohammad-Mahdi TAGHDIRI, Seyed Hassan TONEKABONI  ========== 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==========  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 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.

Keywords

Biotinidase deficiency; Neurometabolic disorder; Developmental delay; Early diagnosis