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一例新的短链酰基辅酶A脱氢酶缺乏症：临床、生化、遗传学及氢核磁共振波谱研究

A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.

作者信息

Battisti C, Forte F, Molinelli M, Funghini S, Pasquini E, Tassini M, Dotti M T, Federico A

机构信息

Department of Neurological and Behavioural Sciences, Neurometabolic Diseases Unit Policlinico "Le Scotte", Siena, Italy.

出版信息

Neurol Sci. 2007 Dec;28(6):328-30. doi: 10.1007/s10072-007-0847-4. Epub 2008 Jan 4.

DOI:10.1007/s10072-007-0847-4
PMID:18175080
Abstract

Short-chain-acyl-CoA-dehydrogenase (SCAD) deficiency is an inborn error of mitochondrial fatty acid metabolism caused by rare mutations as well as common susceptibility variations in the SCAD gene. We describe the case of a 23-year-old male patient who had growth and mental retardation, recurrent vomiting, fever and seizures since infancy. Urinary gas chromatography and (1)H-nuclear magnetic resonance showed elevated levels of ethylmalonic acid. Serum concentrations of acylcarnitine, especially butyrylcarnitine (C4), were abnormally high. A homozygous variant allele of the SCAD gene, 625G>A, was detected. The patient broadens the clinical phenotype of SCAD deficiency and underlines the difficulty of diagnosis. The limited number of patients described may be the result of underdiagnosis.

摘要

短链酰基辅酶A脱氢酶（SCAD）缺乏症是一种线粒体脂肪酸代谢的先天性疾病，由SCAD基因中的罕见突变以及常见的易感性变异引起。我们描述了一名23岁男性患者的病例，该患者自婴儿期起就有生长发育和智力迟缓、反复呕吐、发热和癫痫发作。尿气相色谱法和氢核磁共振显示乙基丙二酸水平升高。酰基肉碱的血清浓度，尤其是丁酰肉碱（C4）异常高。检测到SCAD基因的一个纯合变异等位基因，625G>A。该患者扩展了SCAD缺乏症的临床表型，并突出了诊断的困难。所描述的患者数量有限可能是诊断不足的结果。

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本文引用的文献

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赖氨酸对大鼠大脑皮层中肌酸激酶活性的抑制作用。
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变异蛋白的错误折叠、降解和聚集。短链酰基辅酶A脱氢酶（SCAD）缺乏症的分子发病机制。
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The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.美国人群中短链酰基辅酶A脱氢酶基因变异的频率及其与新生儿血斑中C(4)-酰基肉碱浓度的相关性。
Mol Genet Metab. 2003 Apr;78(4):239-46. doi: 10.1016/s1096-7192(03)00034-9.
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Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.先天性代谢缺陷领域中体液的质子核磁共振波谱分析
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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.线粒体脂肪酸氧化缺陷的突变分析：以酰基辅酶A脱氢酶缺乏症为例，特别关注基因型与表型的关系。
Hum Mutat. 2001 Sep;18(3):169-89. doi: 10.1002/humu.1174.
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.常见基因变异在短链酰基辅酶A脱氢酶缺乏症分子发病机制中的作用
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Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.患有短链酰基辅酶A脱氢酶缺乏症的双胞胎姐妹临床症状轻微或无明显症状。
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Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.两名患者短链酰基辅酶A脱氢酶（SCAD）基因中四个新突变的鉴定：其中一个变异等位基因511C→T在普通人群中出现的频率意外地高，625G→A也是如此，二者共同导致对乙基丙二酸尿症易感。
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