视神经脊髓炎样表现的生物素酶缺乏症1例

Abstract
Figure/Table
References
Related Citation (3)

Download: PDF (829 KB) HTML (1 KB)
Export: BibTeX | EndNote (RIS)

Abstract Biotinidase deficiency (BTD) is an autosomal recessive disease. It is caused by the biotinidase gene mutation encoding biotinidase, which causes the complete or partial deficiency of biotinidase activity, resulting in the decrease of biotin, the decrease of the activity of various biotin-dependent carboxylases, the disorder of mitochondrial energy synthesis, metabolic acidosis, organic aciduria and a series of neurological and skin system damage. The clinical manifestations of this disease are complex, individual differences are very large, which can easily lead to missed diagnosis and misdiagnosis. One 11-year-old male patient was admitted to Gansu Children's Hospital, Lanzhou University Second Hospital. The main symptoms were weakness of both upper limbs and spastic paralysis of both lower limbs, and decreased vision. The patient was initially diagnosed as a disease of optic neuromyelitis pedigree, but the effect of immunotherapy was not good. After blood and urine genetic metabolic disease screening and gene testing, the patient was finally diagnosed as biotinidase deficiency, and the symptoms of the patient were relieved after supplementation of biotinidase. Biotinidase deficiency often leads to serious nervous system damage, and biotin supplementation therapy can play a good role. Therefore, early screening and early diagnosis and treatment of this disease is the key to improve the prognosis.

Key words： Biotinidase deficiency Neuromyelitis optica spectrum disorders Screening of the inherited metabolic disease Genetic diagnosis

	Service

	E-mail this article
	Add to my bookshelf
	Add to citation manager
	E-mail Alert
	RSS
	Articles by authors
	LIU Lingwen WEI Hongfang LYU Haiyan ZHANG Yongqing DAI Caijuan ZHANG Yaqiong CHEN Yongqian

Cite this article:

LIU Lingwen WEI Hongfang LYU Haiyan ZHANG Yongqing DAI Caijuan ZHANG Yaqiong CHEN Yongqian. A case of biotinidase deficiency with neuromyelitis optica-like manifestations[J]. 中国当代医药, 2024, 31(1): 146-149,154.

URL:

https://www.dangdaiyiyao.com/EN/ OR https://www.dangdaiyiyao.com/EN/Y2024/V31/I1/146

[1]	张豪正，王广新.生物素酶缺乏症研究进展[J].中华实用儿科杂志，2016，31（8）：637-640.
[2]	Wingerchuk DM，Lennon VA，Lucchinetti CF，et al.The spectrum of neuromyelitis optica[J].Lancet Neurol，2007，6（9）：805-815．
[3]	Jarius S，Wildemann B.The history of neuromyelitis optica[J].J Neuroinflammation，2013，10：8.
[4]	Wingerchuk DM，Lennon VA，Pittock SJ，et al.Revised diagnostic criteria for neuromyelitis optica[J].Neurology，2006，66（10）：1485-1489.
[5]	Wolf B，Grier RE，Allen RJ，et al.Biotinidase deficiency:the enzymatic defect in late-onset multiple carboxylase deficiency[J].Clinica Chimica Acta，1983，131（3）：273-281.
[6]	Wolf B.Worldwide survey of neonatal screening for biotinidase deficiency[J].J Inherit Metab Dis，1991，14（6）：923-927.
[7]	Canda E，Kalkan U，Car S，et al.Biotinidase deficiency：prevalence，impact and management strategies[J].Pediatric Health Med Ther，2020，11:127-133.
[8]	Tiar A，Mekki A，Nagara M，et al.Biotinidase deficiency:novel mutations in Algerian patients[J].Gene，2014，536（1）：193-196.
[9]	Girard B，Bonnemains C，Schmitt E，et al.Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4:A treatable disease[J].Mult Scler，2017，23（1）：119-122.
[10]	Yilmaz S，Serin M，Canda E，et al.A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder:late-onset biotinidase deficiency[J].Metab Brain Dis，2017，32（3）：675-678.
[11]	Wingerchuk DM，Banwell B，Bennett JL，et al.International consensus diagnostic criteria for neuromyelitis optica spectrum disorders[J].Neurology，2015，85（2）：177-189.
[12]	Tourbah A.Biotin and demyelinating diseases--a new connection?[J].Mult Scler，2015，21（12）：1608-1609.
[13]	Cowan TM，Blitzer MG，Wolf B，et al.Technical standards and guidelines for the diagnosis of biotinidase deficiency[J].Genet Med，2010，12（7）：464-470.
[14]	Wolf B.Biotinidase defificiency：“if you have to have an inherited metabolic disease，this is the one to have”[J].Genet Med，2012，14（6）：565-575.
[15]	Hymes J，Stanley CM，Wolf B.Mutations in BTD causing biotinidase deficiency[J].Hum Mutat，2001，18（5）：375-381.
[16]	Kasapkara CS，Akar M，Ozbek MN，et al.Mutations in BTD gene causing biotinidase deficiency：a regional report[J].J Pediatr Endocrinol Metab，2015，28（3/4）：421-424.
[17]	Liu Z，Zhao X，Sheng H，et al.Clinical features，BTD gene mutations，and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China[J].Am J Med Genet A，2018，176（3）：589-596.
[18]	Ye J，Wang T，Han LS，et al.Diagnosis，treatment，follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency[J].J Inherit Metab Dis，2009，32：295- 302.
[19]	Sivri HS，Genc GA，Tokatli A，et al.Hearing loss in biotinidase deficiency:genotype-phenotype correlation[J].J Pediatr，2007，150（4）：439-442.
[20]	Akgun A，Sen A，Onal H.Clinical，biochemical and genotypical characteristics in biotinidase deficiency[J].Pediatr Endocrinol Metab，2021，34（11）：1425-1433.