Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) precipitating unexpected death in an infant: Report of a case and a brief review of literature.

IF 0.6 4区医学 Q4 PATHOLOGY

Malaysian Journal of Pathology Pub Date : 2022-12-01

T Kazemi, E Firgau, D Bunch, S B Kahwash

引用次数: 0

Abstract

Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other inborn errors of metabolism are common causes of Sudden Unexpected Deaths in Infancy (SUDI). If identified early or before metabolic decompensation, MCADD is manageable. In the US and other countries, identification of MCADD has improved through the routine use of newborn screening (NBS), which is able to identify most cases. This case study presented here occurred before NBS was implemented in Ohio for MCADD and outlines the typical clinical presentation, pathological features, and relevant biochemical and molecular markers for identifying MCADD. Genetic counselling should be sought for the family if MCADD is identified.

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中链酰基辅酶a脱氢酶缺乏症(MCADD)导致婴儿意外死亡:1例报告及文献综述

中链酰基辅酶a脱氢酶缺乏症(MCADD)和其他先天性代谢缺陷是婴儿猝死(SUDI)的常见原因。如果早期发现或在代谢失代偿之前，MCADD是可控的。在美国和其他国家，通过常规使用新生儿筛查(NBS)， MCADD的识别得到了改善，该筛查能够识别大多数病例。本案例研究发生在NBS在俄亥俄州实施MCADD之前，并概述了典型的临床表现、病理特征以及识别MCADD的相关生化和分子标志物。如果确诊为MCADD，应寻求家庭遗传咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Malaysian Journal of Pathology PATHOLOGY-

CiteScore

3.60

自引率

5.60%

发文量

期刊介绍： The Malaysian Journal of Pathology is the official journal of the College of Pathologists, Academy of Medicine Malaysia. The primary purpose of The Journal is to publish the results of study and research in Pathology, especially those that have particular relevance to human disease occurring in Malaysia and other countries in this region. The term PATHOLOGY will be interpreted in its broadest sense to include Chemical Pathology, Cytology, Experimental Pathology, Forensic Pathology, Haematology, Histopathology, Immunology, Medical Microbiology and Parasitology. The Journal aims to bring under one cover publications of regional interest embracing the various sub-specialities of Pathology. It is expected that the articles published would be of value not only to pathologists, but also to medical practitioners in search of a scientific basis for the problems encountered in their practice, and to those with an interest in diseases which occur in the tropics.