禁食在诊断中链酰基辅酶a脱氢酶缺乏中的价值

Q4 Medicine

Jornal Brasileiro de Patologia e Medicina Laboratorial Pub Date : 2020-01-01 DOI:10.5935/1676-2444.20200011

C. Vargas, Marion Deon, A. Sitta, D. M. Coelho, P. Silva, Larissa Murussi, L. V. Fleith, Luis Pablo Gravina, C. Crespo, Moacir Wajner, M. Sanseverino

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引用次数: 0

摘要

中链酰基辅酶a脱氢酶缺乏症(MCADD)女性患者，临床反复发作低血糖，意识水平改变，串联质谱检测血液酰基肉碱谱，气相色谱/质谱(GC/MS)检测尿有机酸。该病例表明，当怀疑患有MCADD时，(在可能的情况下)禁食预先采集生物样本的重要性，并强调，考虑到巴西MCADD可能未被诊断，采集生物样本的时间/势头对诊断至关重要。

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O valor do jejum no diagnóstico da deficiência de acil-CoA desidrogenase de cadeia média

Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.

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来源期刊

Jornal Brasileiro de Patologia e Medicina Laboratorial Health Professions-Medical Laboratory Technology

CiteScore

1.30

自引率

0.00%

发文量

审稿时长

20 weeks

期刊介绍： The Jornal Brasileiro de Patologia e Medicina Laboratorial (Brazilian Journal of Pathology and Laboratory Medicine), a continuation of Jornal Brasileiro de Patologia (Brazilian Journal of Pathology), and published quarterly (March, June, September and December) is directed towards the publication of scientific articles that contribute to the development of the area of Laboratory Medicine (Clinical Pathology, Pathology, Cytopathology). It accepts the following categories of articles: original articles, review articles, case reports, short communications, updating articles, letters to editors and reviews.