Biotinidase Deficiency in Children: Clinical Outcomes and Neuroimaging Correlations
Iranian Journal of Child Neurology,
Vol. 20 No. 2 (2026),
1 April 2026
,
Page 55-60
https://doi.org/10.22037/ijcn.v20i2.47525
Abstract
Objectives:
Biotinidase Deficiency (BTD) is an autosomal recessive metabolic disorder caused by mutations in the BTD gene, leading to impaired Biotin metabolism and resulting in severe neurological impairments, including seizures and developmental delays. Early diagnosis and treatment are crucial for improving patient outcomes. This study aims to investigate the clinical outcomes and neuroimaging findings in pediatric patients diagnosed with BTD, emphasizing the importance of early detection and multidisciplinary management.
Materials & Methods:
This retrospective review was conducted over seven years, analyzing medical records of five patients diagnosed with BTD based on clinical, radiological, and genetic criteria. Brain MRIs were performed, and genetic analyses confirmed the presence of pathogenic mutations in the BTD gene.
Results:
All patients exhibited characteristic clinical symptoms of BTD, including seizures and developmental delays. MRI findings revealed bilateral symmetrical increased signal intensity on T2-weighted images and low signal intensity on T1-weighted images in subcortical white matter. Treatment with Biotin resolved seizures in all cases; however, irreversible complications such as sensorineural hearing loss were noted in three patients. Early initiation of Biotin therapy correlated with better clinical outcomes.
Conclusion:
This study highlights the necessity of a multidisciplinary approach to managing BTD, integrating genetic testing, clinical assessments, and neuroimaging. Early diagnosis through newborn screening is vital for improving long-term outcomes in affected children. Future studies should focus on expanding screening initiatives and investigating long-term treatment effects.
- Biotinidase Deficiency
- Neuroimaging
- Pediatric Metabolism Disorders
- Genetic Testing
- Seizures
How to Cite
References
Asgari A, Rouhi Dehnabeh S, Zargari M, Khani S, Mozafari H, Varasteh A, et al. Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. Arch Iran Med. 2016;19(11):774-8.
Tankeu AT, Van Winckel G, Elmers J, Jaccard E, Superti-Furga A, Wolf B, et al. Biotinidase deficiency: What have we learned in forty years? Mol Genet Metab. 2023;138(4):107560.
Ranjan RS, Taneja S, Singh A, Gupta V. Congenital biotinidase deficiency - MRI findings in two cases. Indian J Radiol Imaging. 2019;29(1):99-103.
Wolf B. Biotinidase deficiency:“if you have to have an inherited metabolic disease, this is the one to have”. Genetics in Medicine. 2012;14(6):565-75.
Wolf B. The neurology of biotinidase deficiency. Molecular genetics and metabolism. 2011;104(1-2):27-34.
Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, et al. Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). Iranian journal of child neurology. 2013;7(4):47.
Wolf B. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”. Genetics in Medicine. 2012;14(6):565-75.
Borsatto T, Sperb-Ludwig F, Lima SE, MR SC, PA SF, S. Camelo J J, et al. Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One. 2017;12(5):e0177503.
Borsatto T, Sperb-Ludwig F, Lima SE, S. Carvalho MR, S. Fonseca PA, S. Camelo Jr J, et al. Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. PLoS One. 2017;12(5):e0177503.
Kannan B, Navamani HK, Jayaseelan VP, Arumugam PJJoPG. A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis. 2023;12(01):001-15.
Naseer MI, Pushparaj PN, Abdulkareem AA, Muthaffar OYJFiP. Whole-exome sequencing reveals a missense variant c. 1612C> T (p. Arg538Cys) in the BTD gene leading to neuromyelitis optica spectrum disorder in saudi families. 2022;9:829251.
Wolf BJGiM. Biotinidase deficiency:“if you have to have an inherited metabolic disease, this is the one to have”. 2012;14(6):565-75.
Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatric radiology. 2008;38:848-56.
Singh P, Gurnani R, Rawat A, Parihar A. Brain MRI findings in an infant with congenital biotinidase deficiency. BMJ Case Reports. 2021;14(10).
Biswas A, McNamara C, Gowda V, Gala F, Sudhakar S, Sidpra J, et al. Neuroimaging features of biotinidase deficiency. American Journal of Neuroradiology. 2023;44(3):328-33.
Talebi H, Yaghini O, Habibi Z. Biotinidase deficiency and its impact on the auditory system in Iranian children. Auditory and Vestibular Research. 2020.
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