Isovaleric Acidemia in a 5 Years of Boy: A Case Report

Journal of Current and Advance Medical Research Pub Date : 2019-03-27 DOI:10.3329/JCAMR.V6I1.40788

Md Nazmul Haque, N. Saha, B. Alam, Q. Mohammad, S. Hoque, A. Islam, Y. Chowdhury, B. Debnath

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引用次数: 2

Abstract

Isovaleric acidemia (IVA) is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase (IVD). In this case report a five years old boy was admitted to National Institute of Neurosciences and Hospital, Dhaka Bangladesh with the history of fever, cough, vomiting, diarrhea, stupor and extreme sleepiness for 3 days. Second degree consanguinity was documented between the parents. Neurological examination revealed exaggerated reflexes and ankle clonus was present bilaterally. EEG and MRI of brain had normal results. Urine organic acid analysis by gas chromatography-mass spectrometry showed slight increment in concentration of 3 hydroxyisovaleric acid and an elevated concentration of isovalerylglycine. Tandem mass spectrometry of acylcarnitines in dried blood spots showed elevated C5-carnitine isovalerylcarnitine (10.3umol/l). Based on history, clinical examination and laboratory results, a diagnosis of isovaleric academia was ascertained. Patient was treated accordingly with rehydration fluid, correction of metabolic acidosis, antibiotic and supportive care Journal of Current and Advance Medical Research 2019;6(1):64-66

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5岁男童异戊酸血症1例报告

异戊酸血症(IVA)是由于缺乏异戊酸辅酶a脱氢酶(IVD)引起的一种常染色体隐性亮氨酸代谢疾病。在本病例报告中，一名5岁男孩因发烧、咳嗽、呕吐、腹泻、昏迷和极度嗜睡3天被孟加拉国达卡国家神经科学研究所和医院收治。父母之间有二级血缘关系。神经学检查显示双侧反射过度和踝关节阵挛。脑电图、MRI检查结果正常。尿有机酸气相色谱-质谱分析显示，3羟基异戊酸浓度略有增加，异戊酰甘氨酸浓度升高。串联质谱法测定干血斑中酰基肉碱含量，c5 -肉碱异戊基肉碱含量升高(10.3umol/l)。根据病史，临床检查和实验室结果，确定诊断为异戊醛学术界。给予补液、代谢性酸中毒纠正、抗生素及支持治疗等治疗。中华医学进展;2019;6(1):64-66

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Journal of Current and Advance Medical Research

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