A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
DOI:
https://doi.org/10.52206/jsmc.2025.15.4.1204Abstract
Background: Biotinidase deficiency is a rare autosomal recessive metabolic disorder caused by defective recycling of biotin. This results in multisystem involvement, with dermatological, neurological, and immunological manifestations. Due to overlapping features with other conditions such as acrodermatitis enteropathica, diagnosis can be delayed or missed, especially in low-resource settings.
Case Presentation: We describe a 2.5-year-old male toddler who presented with persistent eczematous rash, alopecia, conjunctivitis, recurrent seizures, developmental delay, and progressive hearing loss. The child was initially misdiagnosed as having acrodermatitis enteropathica. Laboratory evaluation revealed markedly reduced biotinidase activity (1.8 nmol/min/mL; reference range: >4.4 nmol/min/mL), confirming biotinidase deficiency.
Results: The patient was treated with oral biotin supplementation (5 mg/day) alongside supportive topical therapies. Within one month, there was dramatic improvement in cutaneous lesions, hair regrowth, seizure control, and developmental milestones. However, sensorineural hearing loss persisted despite treatment initiation.
Conclusion: This case highlights the diagnostic challenges of biotinidase deficiency in resource-limited settings where metabolic screening is not routinely available. Early recognition and timely supplementation with biotin can lead to rapid and transformative clinical improvement, preventing irreversible complications such as hearing loss and neurodevelopmental delay.
Keywords: Acrodermatitis enteropathica, Biotinidase deficiency, Consanguinity; Developmental delay, Eczema, Pediatric metabolic disorder, Sensorineural hearing loss.
References
Tardy AL, Pouteau E, Marquez D, Yilmaz C, Scholey A: Vitamins and Minerals for Energy, Fatigue and Cognition: A Narrative Review of the Biochemical and Clinical Evidence. Nutrients. 2020121, 228-2020. https://doi.org/10.3390/nu12010228
Wolf B: Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis. 1991, 14:923-927. https://doi.org/10.1007/BF01800475
Wolf B. Biotinidase Deficiency. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. https://www.ncbi.nlm.nih.gov/books/NBK1322/
Ahmed S, Ni M, DeBerardinis RJ, Habib A, Akbar F, Afroze B: Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country. Clin Lab. 2021, 67:10-7754. https://doi.org/10.7754/Clin.Lab.2020.200937
Saleem H, Simpson B: Biotinidase Deficiency. In. StatPearls, Treasure Island (FL): StatPearls Publishing; February 9; 2023.
Tomar R, Vashisth D, Vasudevan R: Biotinidase deficiency. Med J Armed Forces India. 2012, 68:81-83. https://doi.org/10.1016/S0377-1237(11)60118-4
Asgari A, Rouhi Dehnabeh S, Zargari M. Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. Arch Iran Med. 2016, 19:774-778.
Wolf B, Grier RE, Secor McVoy JR, Heard GS: Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis. 19858, 1:53-58. https://doi.org/10.1007/BF01800660
Kannan B, Navamani HK, Jayaseelan VP, Arumugam P: A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis. J Pediatr Genet. 2022:1-15. https://doi.org/10.1055/s-0042-1757887
László A, Schuler EA, Sallay E, et al.: Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. J Inherit Metab Dis. 2003, 26:693-698. https://doi.org/10.1023/b:boli.0000005622.89660.59
Szyma?ska E, ?redzi?ska M, ?ugowska A, Pajdowska M, Rokicki D, Tylki-Szyma?ska A: Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up. Mol Genet Metab Rep. 20155, 33-35. https://doi.org/10.1016/j.ymgmr.2015.09.004
Gaspar HB, Hammarström L, Mahlaoui N, Borte M, Borte S: The case for mandatory newborn screening for severe combined immunodeficiency (SCID). J Clin Immunol. 2014, 34:393-397. https://doi.org/10.1007/s10875-014-0029-0
Reynolds E, Potter SN, Scott S, Bailey DB: Parent Reports of Developmental Service Utilization After Newborn Screening. International Journal of Neonatal Screening. 2025, 11:3. http://doi.org/10.3390/ijns11010003
Wolf B, Hsia YE, Sweetman L, et al.: Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics. 1981, 68:113-118. https://doi.org/10.3390/ijns11010003
Wolf B: Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. Mol Genet Metab. 2015, 116:113-118. https://doi.org/10.1016/j.ymgme.2015.08.012
Cowan TM, Blitzer MG, Wolf B; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee: Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med. 2010, 12:464-470. https://doi.org/10.1097/GIM.0b013e3181e4cc0f
Additional Files
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 The authors retain the copyrights. Authors are permitted and encouraged to post their work online (e.g. in institutional repositories or on their website), as it can lead to productive exchanges, as well as greater citation of published work.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Readers may “Share-copy and redistribute the material in any medium or format” and “Adapt-remix, transform, and build upon the material”. The readers must give appropriate credit to the source of the material and indicate if changes were made to the material. Readers may not use the material for commercial purpose. The readers may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
