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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
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Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.

机译：短链酰基辅酶A脱氢酶缺乏症：在一个大家庭中进行的研究增加了疾病的复杂性。

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OBJECTIVE: To understand the expanding clinical and biochemical spectrum of short-chain acyl-CoA dehydrogenase (SCAD) deficiency, the impact of which is not fully understood. STUDY DESIGN: We studied a family with SCAD deficiency and determined urinary ethylmalonic acid excretion, plasma C(4)-carnitine, SCAD enzyme activity in fibroblasts and lymphocytes, DNA mutations in the SCAD gene, and clinical expression. The index patient was born prematurely and had otherwise unexplained cholestasis and hepatomegaly during the first year of life. His mother developed a hemolysis-elevated liver enzymes-low platelets (HELLP) syndrome while pregnant with the index patient. RESULTS: Two siblings had a homozygous inactivating 1138C>T mutation, whereas the father was compound heterozygous for this mutation and the common 625G>A polymorphism. There was a good correlation between the type of SCAD mutation, the residual SCAD enzyme activity, and the levels of urinary ethylmalonic acid and plasma C(4)-carnitine in each of the eight family members. Retrospective acylcarnitine analysis of the index patient's Guthrie screening card confirmed the abnormal increase of C(4)-carnitine, suggestive of SCAD deficiency. None of the family members had hypotonia, developmental delay, or episodes of ketotic hypoglycemia. CONCLUSION: Homozygosity for an inactivating SCAD mutation does not necessarily result in disease. The previously held opinion that SCAD deficiency is always a serious disorder may have been influenced by a clinical bias. Homozygosity for an inactivating 1138C>T SCAD mutation was assessed by neonatal screening of blood spot acylcarnitines. SCAD deficiency may be associated with maternal HELLP syndrome.
机译：目的：了解短链酰基辅酶A脱氢酶（SCAD）缺乏症的不断扩大的临床和生化光谱，其影响尚不完全清楚。研究设计：我们研究了一个SCAD缺乏的家庭，并确定了尿液中的乙基丙二酸排泄量，血浆C（4）-肉碱，成纤维细胞和淋巴细胞中的SCAD酶活性，SCAD基因中的DNA突变以及临床表达。索引患者早产，在生命的第一年内患有无法解释的胆汁淤积和肝肿大。他的母亲在怀有该指标的患者时出现了溶血升高的肝酶低血小板（HELLP）综合征。结果：两个兄弟姐妹有一个纯合的失活的1138C> T突变，而父亲是这个突变的复合杂合子，并且常见的是625G> A多态性。在八个家族成员中的每个成员中，SCAD突变的类型，残留的SCAD酶活性以及尿液中的乙基乙基丙二酸和血浆C（4）-肉碱水平之间都具有良好的相关性。索引患者的Guthrie筛查卡的酰基肉碱的回顾性分析证实了C（4）-肉碱的异常增加，提示SCAD缺乏。没有一个家庭成员患有肌张力低下，发育迟缓或酮症性低血糖发作。结论：SCAD突变的纯合子不一定导致疾病。先前认为SCAD缺乏症始终是一种严重疾病的观点可能已受到临床偏见的影响。通过新生儿筛查血点酰基肉碱来评估失活的1138C> T SCAD突变的纯合性。 SCAD缺乏可能与母亲HELLP综合征有关。

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