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以肝功能异常为主的多种酰基辅酶A脱氢酶缺乏症的护理 被引量:1

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摘要 多种酰基辅酶A脱氢酶缺乏症(MADD)是一种脂肪酸氧化代谢紊乱,属常染色体隐性遗传。MADD临床表现多样,分为三个亚型:Ⅰ型为新生儿期发病,可表现为低张力、肝大、低酮症性低血糖、代谢性酸中毒和高血氨症,同时存在先天异常,比如囊性肾发育不良、面部畸形、舟底足变形(船底状脚)、外生殖器的异常,此型患者常常死于新生儿期;Ⅱ型同样为新生儿期起病,但不伴先天异常.
机构地区 湖南省儿童医院
出处 《齐鲁护理杂志》 2018年第13期120-121,共2页 Journal of Qilu Nursing
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  • 1杨艳玲,木村正彦,袁云,钱宁,刘雪琴,张月华,包新华,吴晔,孙芳,宋金青,長谷川有紀,山口清次,重松陽介,秦炯,吴希如.戊二酸尿症Ⅱ型所致脂肪沉积性肌肉病的诊断与治疗分析[J].中华神经科杂志,2004,37(5):438-441. 被引量:32
  • 2Frerman FE,Goodman SI.Deficiency of electron transfer flavoprotein or electron transfer fiavoprotein:ubiquinone oxidoreductase in glutaric acidemia type Ⅱ fibroblasts.Proc Natl Acad Sci U S A,1985,82 (13):4517-4520.
  • 3Henriques BJ,Rodrigues JV,Olsen RK,et al.Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency:a molecular rationale for the effects of riboflavin supplementation.J Biol Chem,2009,284(7):4222-4229.
  • 4Tamaoki Y,Kimura M,Hasegawa Y,et al.A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.Brain Dev,2002,24 (7):675-680.
  • 5Ohkuma A,Noguchi S,Sugie H,et al.Clinical and genetic analysis of lipid storage myopathies.Muscle Nerve,2009,39(3):333-342.
  • 6Han LS,Ye J,Qiu WJ,et al.Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report.J Inherit Metab Dis,2007,30(4):507-514.
  • 7Frerman FE,Goodman ST.The metabolic and molecular bases of inherited diseases.8th.New York:McGraw-Hill,2001:2357-2365.
  • 8Olsen RK,Olpin SE,Andresen BS,et al.ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.Brain,2007,130(8):2045-2054.
  • 9Gempel K,Topaloglu H,Talim B,et al.The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron transferring flavoprotein dehydrogenase (ETFDH) gene.Brain,2007,130 (8):2037-2044.
  • 10Yotsumoto Y,Hasegawa Y,Fukuda S,et al.Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.Mol Genet Metab,2008,94(1):61-67.

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