以情感障碍为首发症状的迟发型甲基丙二酸血症1例及文献复习
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摘要
目的本文回顾性分析1例以"兴奋、话多、行为紊乱1周"为主诉就诊于济宁市精神病防治院,后因"行走不稳、二便失禁、意识模糊10天"转诊于山东省立医院确诊为"甲基丙二酸血症"患者的临床资料,旨在帮助提高临床医生对该疾病的认识,有助于及早识别该疾病,减少误诊、漏诊,减少病人的痛苦,改善预后。
This paper retrospectively analyzed the clinical data of a patient who was admitted to Jining Psychiatric Hospital with the complaint of"excited,talk active and conduct disorder for one week",and then diagnosed with"Methylmalonicacidemia"in Shandong Provincial Hospital because of"difficult walking,incontinence and confusion for 10 days". Its purpose is to help clinicians to improve their understanding of the disease and identify the disease as early as possible to reduce misdiagnosis and missed diagnosis,patient's pain and improve prognosis.
This paper retrospectively analyzed the clinical data of a patient who was admitted to Jining Psychiatric Hospital with the complaint of"excited,talk active and conduct disorder for one week",and then diagnosed with"Methylmalonicacidemia"in Shandong Provincial Hospital because of"difficult walking,incontinence and confusion for 10 days". Its purpose is to help clinicians to improve their understanding of the disease and identify the disease as early as possible to reduce misdiagnosis and missed diagnosis,patient's pain and improve prognosis.
引文
[1]Baumgartner MR,H9rster F,Dionisi-Vici C,et al.Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia[J].Orphanet JRare Dis,2014,9:130.DOI:10.1186/s13023-014-0130-8.
[2]Wu LY,An H,Liu J,et al.Manic-depressive psychosis as the initial symptom in adult siblings with late-onset combined methylmalonic aciduria and homocystinemia,cobalamin C type[J].Chin Med J(Engl),2017,130(4):492-494.DOI:10.4103/0366-6999.199826.
[3]陈文琳,李鑫,毛翛,等.晚发型甲基丙二酸尿症合并同型半胱氨酸血症临床及分子遗传学特点研究[J].国际神经病学神经外科学杂志,2017,44(2):132-138.DOI:10.16636/j.cnki.jinn.2017.02.005.
[4]Deodato F,Boenzi S,Santorelli FM,et al.Methylmalonic and propionic aciduria[J].Am J Med Genet C Semin Med Genet,2006,142C(2):104-112.DOI:10.1002/ajmg.c.30090.
[5]蒋雯巍,蒋雨平.甲钴胺代谢及其相关性疾病[J].中国临床神经科学,2010,18(2):203-207,212.DOI:10.3969/j.issn.1008-0678.2010.02.018.
[6]Martínez MA,Rincón A,Desviat LR,et al.Genetic analysis of three genes causing isolated methylmalonic acidemia:identification of 21 novel allelic variants[J].Mol Genet Metab,2005,84(4):317-325.DOI:10.1016/j.ymgme.2004.11.011.
[7]Wang F,Han L,Ye J,et al.Analysis of the MUT gene mutations in patients with methylmalonic acidemia[J].Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2009,26(5):485-489.DOI:10.3760/cma.j.issn.1003-9406.2009.05.001.
[8]Wang X,Sun W,Yang Y,et al.A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria,cblC type,in China[J].J Neurol Sci,2012,318(1-2):155-159.DOI:10.1016/j.jns.2012.04.012.
[9]Okun JG,H9rster F,Farkas LM,et al.Neurodegeneration in methylmalonic aciduria involves inhibition of complexⅡand the tricarboxylic acid cycle,and synergistically acting excitotoxicity[J].J Biol Chem,2002,277(17):14674-14680.DOI:10.1074/jbc.M200997200.
[10]Wajner M,Coelho JC.Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production[J].J Inherit Metab Dis,1997,20(6):761-768.
[11]Fowler B,Leonard JV,Baumgartner MR.Causes of and diagnostic approach to methylmalonic acidurias[J].J Inherit Metab Dis,2008,31(3):350-360.DOI:10.1007/s10545-008-0839-4.
[12]Martinelli D,Deodato F,Dionisi-Vici C.Cobalamin Cdefect:natural history,pathophysiology,and treatment[J].J Inherit Metab Dis,2011,34(1):127-135.DOI:10.1007/s10545-010-9161-z.
[13]Thakkar K,Billa G.Treatment of vitamin B12 deficiencymethylcobalamine cyancobalamine hydroxocobalaminclearing the confusion[J].Eur J Clin Nutr,2015,69(1):1-2.DOI:10.1038/ejcn.2014.165.
[14]Fei W,韩连书.甲基丙二酸血症诊治研究进展[J].临床儿科杂志,2008,26(8):724-727.DOI:10.3969/j.issn.1000-3606.2008.08.023.
[2]Wu LY,An H,Liu J,et al.Manic-depressive psychosis as the initial symptom in adult siblings with late-onset combined methylmalonic aciduria and homocystinemia,cobalamin C type[J].Chin Med J(Engl),2017,130(4):492-494.DOI:10.4103/0366-6999.199826.
[3]陈文琳,李鑫,毛翛,等.晚发型甲基丙二酸尿症合并同型半胱氨酸血症临床及分子遗传学特点研究[J].国际神经病学神经外科学杂志,2017,44(2):132-138.DOI:10.16636/j.cnki.jinn.2017.02.005.
[4]Deodato F,Boenzi S,Santorelli FM,et al.Methylmalonic and propionic aciduria[J].Am J Med Genet C Semin Med Genet,2006,142C(2):104-112.DOI:10.1002/ajmg.c.30090.
[5]蒋雯巍,蒋雨平.甲钴胺代谢及其相关性疾病[J].中国临床神经科学,2010,18(2):203-207,212.DOI:10.3969/j.issn.1008-0678.2010.02.018.
[6]Martínez MA,Rincón A,Desviat LR,et al.Genetic analysis of three genes causing isolated methylmalonic acidemia:identification of 21 novel allelic variants[J].Mol Genet Metab,2005,84(4):317-325.DOI:10.1016/j.ymgme.2004.11.011.
[7]Wang F,Han L,Ye J,et al.Analysis of the MUT gene mutations in patients with methylmalonic acidemia[J].Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2009,26(5):485-489.DOI:10.3760/cma.j.issn.1003-9406.2009.05.001.
[8]Wang X,Sun W,Yang Y,et al.A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria,cblC type,in China[J].J Neurol Sci,2012,318(1-2):155-159.DOI:10.1016/j.jns.2012.04.012.
[9]Okun JG,H9rster F,Farkas LM,et al.Neurodegeneration in methylmalonic aciduria involves inhibition of complexⅡand the tricarboxylic acid cycle,and synergistically acting excitotoxicity[J].J Biol Chem,2002,277(17):14674-14680.DOI:10.1074/jbc.M200997200.
[10]Wajner M,Coelho JC.Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy production[J].J Inherit Metab Dis,1997,20(6):761-768.
[11]Fowler B,Leonard JV,Baumgartner MR.Causes of and diagnostic approach to methylmalonic acidurias[J].J Inherit Metab Dis,2008,31(3):350-360.DOI:10.1007/s10545-008-0839-4.
[12]Martinelli D,Deodato F,Dionisi-Vici C.Cobalamin Cdefect:natural history,pathophysiology,and treatment[J].J Inherit Metab Dis,2011,34(1):127-135.DOI:10.1007/s10545-010-9161-z.
[13]Thakkar K,Billa G.Treatment of vitamin B12 deficiencymethylcobalamine cyancobalamine hydroxocobalaminclearing the confusion[J].Eur J Clin Nutr,2015,69(1):1-2.DOI:10.1038/ejcn.2014.165.
[14]Fei W,韩连书.甲基丙二酸血症诊治研究进展[J].临床儿科杂志,2008,26(8):724-727.DOI:10.3969/j.issn.1000-3606.2008.08.023.