戊二酸血症Ⅰ型1例报告并文献复习

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Abstract To investigate the clinical features,laboratory examination and treatment of glutaric academia typeⅠ,the clinical data of 1 clinically-diagnosed GA1 child were analyzed retrospectively and in combination of literatures in this paper.The child was characterized by psychomotor retardation,extrapyramidal symptoms and head deformity.The test results of blood amino acid was detected by tandem mass spectrometry showed glutaric acid carnitine significantly increased and was accompanied with decreased free carnitine,suggested the existence of GA1;the test results of urinary organic acid was detected by gas chromatography-mass spectrometry showed glutaric acid significantly increased.The child was treated with supplement of Vitamin B₂,L-carnitine,Baclofen for muscle tension relief and limitation of protein diet (limited intake of lysine and tryptophan).The symptoms were relieved after treatment.Some clinical manifestations,such as psychomotor retardation,extrapyramidal symptoms and head deformities,may be of guiding effectiveness for the early detection and early diagnosis of GA1.Application of gas chromatography-mass spectrometry and tandem mass spectrometry for screening of genetic metabolic diseases is helpful for the early diagnosis of inherited metabolic diseases.The treatment at the acute stage is mainly focused on symptomatic support and promotion of the excretion of toxic metabolites.The treatment at the chronic stage is mainly focused on the restricted protein diet.

Key words： Glutaric acidemia typeⅠ Elevated liver enzyme and muscle enzyme Gas chromatography-mass spectrometry analysis

Received: 04 May 2017

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R725.96

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	ZHENG Qi-hua

Cite this article:

ZHENG Qi-hua. One case report and literature review of glutaric academia typeⅠ[J]. 中国当代医药, 2017, 24(24): 141-143.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2017/V24/I24/141

[1]	唐根,陈黎,温鹏强,等.共患戊二酸血症Ⅰ型的单卵双胞胎临床表型与基因突变分析[J].中华实用儿科临床杂志,2015,30（8）：611-614.
[2]	温鹏强,王国兵,刘晓红,等.四例戊二酸血症Ⅰ型患儿临床资料分析与基因突变研究[J].中华医学遗传学杂志,2012,29（6）：642-647.
[3]	刘琦,陈益平,陈伟,等.四例戊二酸血症Ⅰ型患儿GCDH基因的突变研究[J].中华医学遗传学杂志,2015,32（2）：187-191.
[4]	施晓容,柯钟灵,郑爱东,等.一个戊二酸血症Ⅰ型患者家系的临床分析及基因突变研究[J].中华医学遗传学杂志,2014,31（5）：608-611.
[5]	王欣,岳玲,崔小普,等.小儿戊二酸血症Ⅰ型二例[J].脑与神经疾病杂志,2016,24（5）：294-297.
[6]	林剑军.戊二酸血症Ⅰ型的磁共振影像表现[J].医学影像学杂志,2014,24（7）：1264-1266.
[7]	刘芸芝,韦拔,蒋永江,等.新生儿戊二酸血症Ⅱ型1例[J].白求恩医学杂志,2016,14（5）：671-674.
[8]	曾凡勇,吴卫红,刘建军,等.遗传性代谢病高危患儿尿有机酸的筛查[J].中国康复理论与实践,2016,22（8）：947-951.
[9]	樊彩芳.PARP-1/AIF通路介导戊二酸尿症Ⅰ型大鼠大脑皮质损伤的机制研究[D].郑州大学,2015.
[10]	代东伶,文飞球,周少明,等.合并重度脂肪肝的迟发型多种酰基辅酶A脱氢酶缺乏症的临床表现及基因分析[J].中华医学遗传学杂志,2016,33（2）：191-194.
[11]	黄建煌,方文华,林志雄,等.疑似双侧蛛网膜囊肿的戊二酸血症二例并文献复习[J].中华神经外科杂志,2013, 29（6）：575-577.
[12]	丰利芳,陈晓红,李东晓,等.婴儿手足口病后肢体扭转伴发育倒退1月[J].中国当代儿科杂志,2016,18（5）：426-430.
[13]	刘东梅.2例戊二酸血症Ⅰ型患儿的护理[J].浙江医学,2016,38（3）：227-229.
[14]	王峤.戊二酸尿症1型的复杂临床表型与基因型[J].中国当代儿科杂志,2016,18（5）：460-465.
[15]	赏月.有机酸血症患儿临床资料分析与基因突变研究[D].遵义：遵义医学院,2013.