Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

References

• Wolf B, Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Biotinidase deficiency. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. GeneReviews(®). Seattle (WA):University of Washington, Seattle; 1993, p. 12.
   Google Scholar
• Canda E, Kalkan Uçar S, Çoker M. Biotinidase deficiency: prevalence, impact and management strategies. Pediatric Health Med Ther. 2020;11:127–33. doi:10.2147/PHMT.S198656.
   PubMed Web of Science ®Google Scholar
• Wolf B. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”. Genet Med. 2012;14(6):565–75. doi:10.1038/gim.2011.6.
   PubMed Web of Science ®Google Scholar
• Coşkun T, Tokatli A, Ozalp I. Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. Turk J Pediatr. 1994;36(4):267–78.
   PubMed Web of Science ®Google Scholar
• Saleem H, Simpson B. Biotinidase deficiency. StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.
   Google Scholar
• Ferreira P, Chan A, Wolf B. Irreversibility of symptoms with biotin therapy in an adult with profound biotinidase deficiency. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. JIMD reports. Vol. 36. Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. p. 117–20.
   Google Scholar
• Salbert JA BA, Wolf B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica. 1993;206(4):177–81. doi:10.1159/000310387.
   PubMed Web of Science ®Google Scholar
• Tankeu AT, Van Winckel G, Elmers J, Jaccard E, Superti-Furga A, Wolf B, Tran C. Biotinidase deficiency: what have we learned in forty years? Mol Genet Metab. 2023;138(4):107560. doi:10.1016/j.ymgme.2023.107560.
   PubMed Web of Science ®Google Scholar
• Ramani JR, Gopinath H, Nagendran P, Ganne P, Arun Babu T. Biotinidase deficiency: a boy with angular cheilitis and blepharitis. Int J Dermatol. 2022;61(4):e148–e50. doi:10.1111/ijd.15875.
   PubMed Web of Science ®Google Scholar
• Chamney S, Jothi VG, McLoone E. Biotinidase deficiency, bilateral optic atrophy, and a visual field defect. Neuroophthalmology. 2013;37(6):251–3. doi:10.3109/01658107.2013.824004.
   PubMed Web of Science ®Google Scholar
• Ebrahimi-Fakhari D, Saffari A, Pearl PL. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022;137(4):436–44. doi:10.1016/j.ymgme.2021.06.006.
   PubMed Web of Science ®Google Scholar
• Hsu R-H, Chien Y-H, Hwu W-L, Chang IF, Ho H-C, Chou S-P, Huang T-M, Lee N-C. Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. Orphanet J Rare Dis. 2019;14(1):6. doi:10.1186/s13023-018-0992-2.
   PubMedGoogle Scholar
• Yilmaz S, Serin M, Canda E, Eraslan C, Tekin H, Ucar SK, Gokben S, Tekgul H, Serdaroglu G. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. Metab Brain Dis. 2017;32(3):675–8. doi:10.1007/s11011-017-9984-5.
   PubMed Web of Science ®Google Scholar
• Wolf B. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders. Mult Scler Relat Disord. 2019;28:26–30. doi:10.1016/j.msard.2018.11.030.
   PubMed Web of Science ®Google Scholar
• Wolf B. Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency. Mult Scler J Exp Transl Clin. 2020;6(2):2055217320923131. doi:10.1177/2055217320923131.
   Google Scholar
• Van Iseghem V, Sprengers M, De Zaeytijd J, Sindic CJM, Willekens B, Dermaut B, Hemelsoet D, Laureys G. Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰. Mult Scler Relat Disord. 2019;32:64–5. doi:10.1016/j.msard.2019.04.025.
   PubMed Web of Science ®Google Scholar
• Nasehi M, Karimzadeh P, Tabrizi A, Babaei M. A girl with myelopathy and vision loss, misdiagnosis as neuromyelitis optica spectrum disorder: the first Iranian case report on biotinidase deficiency. Iran J Pediatr. 2022;32(4):e120498.
   Web of Science ®Google Scholar
• Kiykim E, Kiykim A, Cansever MS, Zeybek CA. Biotinidase deficiency mimicking primary immune deficiencies. BMJ Case Rep. 2015;2015(may08 1):bcr2014209275. doi:10.1136/bcr-2014-209275.
   PubMedGoogle Scholar
• Pindolia K, Jordan M, Wolf B. Analysis of mutations causing biotinidase deficiency. Hum Mutat. 2010;31(9):983–91. doi:10.1002/humu.21303.
   PubMed Web of Science ®Google Scholar
• Mardhiah M, Azize NAA, Yakob Y, Affandi O, Hock NL, Rowani MR, Habib A. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population. Mol Genet Metab Rep. 2020;22:100548. doi:10.1016/j.ymgmr.2019.100548.
   PubMed Web of Science ®Google Scholar
• Campana G, Valentini G, Legnaioli MI, Giovannucci-Uzielli ML, Pavari E. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. Ophthalmic Paediatr Genet. 1987;8(2):125–9. doi:10.3109/13816818709028528.
   PubMed Web of Science ®Google Scholar
• Rajendiran A, Sampath S. Biotinidase deficiency–clinching the diagnosis rapidly can make all the difference! BMJ Case Rep. 2011;2011(sep28 1):bcr0720114494. doi:10.1136/bcr.07.2011.4494.
   PubMedGoogle Scholar
• Van Winckel G, Ballhausen D, Wolf B, Procter M, Mao R, Burda P, Strambo D, Kuntzer T, Tran C. Severe distal motor involvement in a non-compliant adult with biotinidase deficiency: the necessity of life-long biotin therapy. Front Neurol. 2020;11:516799. doi:10.3389/fneur.2020.516799.
   PubMed Web of Science ®Google Scholar
• Hayati AA, Wan-Hitam WH, Cheong MT, Yunus R, Shatriah I. Optic neuritis in a child with biotinidase deficiency: case report and literature review. Clin Ophthalmol. 2012;6:389–95. doi:10.2147/OPTH.S29048.
   PubMedGoogle Scholar
• Khan AO. Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder. J Aapos. 2021;25(4):248–50. doi:10.1016/j.jaapos.2021.04.003.
   PubMed Web of Science ®Google Scholar
• Bottin L, Prud’hon S, Guey S, Giannesini C, Wolf B, Pindolia K, Stankoff B. Biotinidase deficiency mimicking neuromyelitis optica: initially exhibiting symptoms in adulthood. Mult Scler. 2015;21(12):1604–7. doi:10.1177/1352458515596457.
   PubMed Web of Science ®Google Scholar
• Bilge N, Yevgi R. Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder. Mult Scler Relat Disord. 2020;44:102280. doi:10.1016/j.msard.2020.102280.
   PubMed Web of Science ®Google Scholar
• Shah S, Khan N, Lakshmanan R, Lewis B, Nagarajan L. Biotinidase deficiency presenting as neuromyelitis optica spectrum disorder. Brain Dev. 2020;42(10):762–6. doi:10.1016/j.braindev.2020.07.007.
   PubMed Web of Science ®Google Scholar
• Taitz LS, Green A, Strachan I, Bartlett K, Bennet M. Biotinidase deficiency and the eye and ear. Lancet. 1983;2(8355):918. doi:10.1016/S0140-6736(83)90913-3.
   PubMed Web of Science ®Google Scholar
• Deschamps R, Savatovsky J, Vignal C, Fisselier M, Imbard A, Wolf B, Procter M, Gout O. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. J Neurol Neurosurg Psychiatry. 2018;89(9):1009–10. doi:10.1136/jnnp-2017-316644.
   PubMed Web of Science ®Google Scholar
• Ramaekers VT, Brab M, Rau G, Heimann G. Recovery from neurological deficits following biotin treatment in a biotinidase km variant. Neuropediatrics. 1993;24(2):98–102. doi:10.1055/s-2008-1071522.
   PubMed Web of Science ®Google Scholar
• Girard B, Bonnemains C, Schmitt E, Raffo E, Bilbault C. Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: a treatable disease. Mult Scler. 2017;23(1):119–22. doi:10.1177/1352458516646087.
   PubMed Web of Science ®Google Scholar
• Rahman S, Standing S, Dalton RN, Pike MG. Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. Dev Med Child Neurol. 1997;39(12):830–1. doi:10.1111/j.1469-8749.1997.tb07552.x.
   PubMed Web of Science ®Google Scholar