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一名5岁男孩的突变与脂质贮积性肌病检测:病例报告研究

Detection of mutations and lipid storage myopathy in a 5-year-old boy: a case report study.

作者信息

Hosseini Seyed Ahmad, Shojaie Layla, Ghelichi-Ghojogh Mousa

机构信息

Department of Pediatrics, Neonatal and Children's Health Research Center Research Center, Golestan University of Medical Science, Gorgan, Iran.

Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

出版信息

Ann Med Surg (Lond). 2023 Apr 18;85(5):2049-2051. doi: 10.1097/MS9.0000000000000561. eCollection 2023 May.

Abstract

UNLABELLED

Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 () deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction.

CASE PRESENTATION

At the age of 3, the patient was found to have movement problems, such as difficulty rising from a chair (Gower's sign) and climbing stairs, which led to hospital admission and diagnosis. At the age of 4, carrier detection for spinal muscular atrophy was normal; however, at the age of 5, whole-exome sequencing revealed a pathogenic variant of Chr1: 154960762: A>T c.A554T:p.D185V in exon-2 of gene was identified as homozygous.

CLINICAL DISCUSSION

In general, it is expected that the treatment of type 2 gene mutation with riboflavin has a better prognosis, but these interventions may not be sufficient for the survival of the patient. Treatment with riboflavin has increased various functions, including skeletal-muscular, and cardiovascular function. As a result, like the patient in our study, the mutation in exon-2 is more severe and less responsive to riboflavin treatment.

CONCLUSION

Checking the gene is recommended in all people with multiple acyl-CoA dehydrogenase deficiency.

摘要

未标注

由于黄素腺嘌呤二核苷酸合成酶1()缺乏引起的脂质贮积性肌病是一种常染色体隐性代谢紊乱,可导致线粒体功能障碍。

病例报告

患者3岁时出现运动问题,如从椅子上起身困难(Gower征)和爬楼梯困难,遂入院并确诊。4岁时,脊髓性肌萎缩症的携带者检测结果正常;然而,5岁时,全外显子组测序显示1号染色体上的一个致病变异:154960762:A>T,c.A554T:p.D185V,该变异在基因的第2外显子中被鉴定为纯合子。

临床讨论

一般来说,预计用核黄素治疗2型基因突变预后较好,但这些干预措施可能不足以维持患者的生命。核黄素治疗可改善多种功能,包括骨骼肌和心血管功能。因此,与我们研究中的患者一样,第2外显子的突变更为严重,对核黄素治疗的反应较差。

结论

建议对所有患有多种酰基辅酶A脱氢酶缺乏症的患者进行基因检测。

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本文引用的文献

1
Retrograde response to mitochondrial dysfunctions associated to LOF variations in exon 2: unraveling the importance of RFVT2.
Free Radic Res. 2022 Jul-Aug;56(7-8):511-525. doi: 10.1080/10715762.2022.2146501. Epub 2022 Dec 8.
2
Mutation Spectrum of Primary Lipid Storage Myopathies.
Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):106-113. doi: 10.4103/aian.aian_333_21. Epub 2022 Feb 1.
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The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines.
Int J Surg. 2020 Dec;84:226-230. doi: 10.1016/j.ijsu.2020.10.034. Epub 2020 Nov 9.
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Disorders of riboflavin metabolism.
J Inherit Metab Dis. 2019 Jul;42(4):608-619. doi: 10.1002/jimd.12058. Epub 2019 Mar 11.
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Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Neuromuscul Disord. 2018 Sep;28(9):787-790. doi: 10.1016/j.nmd.2018.05.009. Epub 2018 May 31.
8
Riboflavin transport and metabolism in humans.
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