生物素酶缺乏相關視神經萎縮一例_Chinese Journal of Ocular Fundus Diseases

Authors：

陳妙虹 , 姚奕玲 , 林勤 , 曾鍵 ,  張國明

暨南大學附屬深圳市眼科醫院深圳市眼科醫院深圳市醫學重點學科廣東省高水平臨床重點專科 518040;

Corresponding?author：

張國明, Email: 13823509060@163.com

Keywords：

生物素酶缺乏; 視神經萎縮; 病例報告

DOI：

10.3760/cma.j.cn511434-20210329-00157

Video：

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Citation： 陳妙虹, 姚奕玲, 林勤, 曾鍵, 張國明. 生物素酶缺乏相關視神經萎縮一例. Chinese Journal of Ocular Fundus Diseases, 2021, 37(10): 803-804. doi: 10.3760/cma.j.cn511434-20210329-00157 Copy

1.	Wolf B, Grier RE, Allen RJ, et al. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency[J]. Clin Chim Acta, 1983, 131(3): 273-281. DOI: 10.1016/0009-8981(83)90096-7.
2.	Nyhan WL, Ozand PT. Atlas of metabolic disease[M]. Spain: Chapman & Hall Medical, 1998: 33-40.
3.	Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency[J]. J Inherit Metab Dis, 1991, 14(6): 923-927. DOI: 10.1007/BF01800475.
4.	Hsu RH, Chien YH, Hwu WL, et al. Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population[J/OL]. Orphanet J Rare Dis, 2019, 14(1): 6[2019-01-07]. https://pubmed.ncbi.nlm.nih.gov/30616616/. DOI: 10.1186/s13023-018-0992-2.
5.	Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"[J]. Genet Med, 2012, 14(6): 565-575. DOI: 10.1038/gim.2011.6.
6.	Campana G, Valentini G, Legnaioli MI, et al. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies[J]. Ophthalmic Paediatr Genet, 1987, 8(2): 125-129. DOI: 10.3109/13816818709028528.
7.	Deschamps R, Savatovsky J, Vignal C, et al. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy[J]. J Neurol Neurosurg Psychiatry, 2018, 89(9): 1009-1010. DOI: 10.1136/jnnp-2017-316644.
8.	Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency[J]. Ophthalmologica, 1993, 206(4): 177-181. DOI: 10.1159/000310387.
9.	Hayati AA, Wan-Hitam WH, Cheong MT, et al. Optic neuritis in a child with biotinidase deficiency: case report and literature review[J]. Clin Ophthalmol, 2012, 6: 389-395. DOI: 10.2147/OPTH.S29048.
10.	Huizing M, Brooks BP, Anikster Y. Optic atrophies in metabolic disorders[J]. Mol Genet Metab, 2005, 86(1-2): 51-60. DOI: 10.1016/j.ymgme.2005.07.034.
11.	Vallejo-Torres L, Castilla I, Couce ML, et al. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency[J/OL]. Pediatrics, 2015, 136(2): e424-e432[2015-07-13]. https://pubmed.ncbi.nlm.nih.gov/26169436/. DOI: 10.1542/peds.2014-3399.
12.	Hong X, Kumar AB, Ronald Scott C, et al. Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers[J]. Mol Genet Metab, 2018, 124(2): 101-108. DOI: 10.1016/j.ymgme.2018.03.012.

1. Wolf B, Grier RE, Allen RJ, et al. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency[J]. Clin Chim Acta, 1983, 131(3): 273-281. DOI: 10.1016/0009-8981(83)90096-7.
2. Nyhan WL, Ozand PT. Atlas of metabolic disease[M]. Spain: Chapman & Hall Medical, 1998: 33-40.
3. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency[J]. J Inherit Metab Dis, 1991, 14(6): 923-927. DOI: 10.1007/BF01800475.
4. Hsu RH, Chien YH, Hwu WL, et al. Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population[J/OL]. Orphanet J Rare Dis, 2019, 14(1): 6[2019-01-07]. https://pubmed.ncbi.nlm.nih.gov/30616616/. DOI: 10.1186/s13023-018-0992-2.
5. Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"[J]. Genet Med, 2012, 14(6): 565-575. DOI: 10.1038/gim.2011.6.
6. Campana G, Valentini G, Legnaioli MI, et al. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies[J]. Ophthalmic Paediatr Genet, 1987, 8(2): 125-129. DOI: 10.3109/13816818709028528.
7. Deschamps R, Savatovsky J, Vignal C, et al. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy[J]. J Neurol Neurosurg Psychiatry, 2018, 89(9): 1009-1010. DOI: 10.1136/jnnp-2017-316644.
8. Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency[J]. Ophthalmologica, 1993, 206(4): 177-181. DOI: 10.1159/000310387.
9. Hayati AA, Wan-Hitam WH, Cheong MT, et al. Optic neuritis in a child with biotinidase deficiency: case report and literature review[J]. Clin Ophthalmol, 2012, 6: 389-395. DOI: 10.2147/OPTH.S29048.
10. Huizing M, Brooks BP, Anikster Y. Optic atrophies in metabolic disorders[J]. Mol Genet Metab, 2005, 86(1-2): 51-60. DOI: 10.1016/j.ymgme.2005.07.034.
11. Vallejo-Torres L, Castilla I, Couce ML, et al. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency[J/OL]. Pediatrics, 2015, 136(2): e424-e432[2015-07-13]. https://pubmed.ncbi.nlm.nih.gov/26169436/. DOI: 10.1542/peds.2014-3399.
12. Hong X, Kumar AB, Ronald Scott C, et al. Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers[J]. Mol Genet Metab, 2018, 124(2): 101-108. DOI: 10.1016/j.ymgme.2018.03.012.

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生物素酶缺乏相關視神經萎縮一例

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