지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2024.7
- 수록면
- 422 - 430 (9page)
이용수
초록· 키워드
오류제보하기
Background and Purpose Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on MADD that describes the phenotypic and genetic features of a Malaysian cohort.
Methods Among the >2,500 patients in a local muscle biopsy database, patients with LSM were identified and their genomic DNA were extracted from muscle samples and peripheral blood. All 13 exons of the electron-transfer flavoprotein dehydrogenase gene (ETFDH) were subsequently sequenced. Fifty controls were included to determine the prevalence of identified mutations in the normal population.
Results Fourteen (82%) of the 17 LSM patients had MADD with ETFDH mutations. Twelve (86%) were Chinese and two were Malay sisters. Other unrelated patients reported that they had no relevant family history. Nine (64%) were females. The median age at onset was 18.5 years (interquartile range=16–37 years). All 14 demonstrated proximal limb weakness, elevated serum creatine kinase levels, and myopathic changes in electromyography. Three patients experienced a metabolic crisis at their presentation. Sanger sequencing of ETFDH revealed nine different variants/mutations, one of which was novel: c.998A>G (p.Y333C) in exon 9. Notably, 12 (86%) patients, including the 2 Malay sisters, carried a common c.250G>A (p.A84T) variant, consistent with the hotspot mutation reported in southern China. All of the patients responded well to riboflavin therapy.
Conclusions Most of our Malaysian cohort with LSM had late-onset, riboflavin-responsive MADD with ETFDH mutations, and they demonstrated phenotypic and genetic features similar to those of cases reported in southern China. Furthermore, we report a novel ETFDH mutation and possibly the first ever MADD patients of Malay descent.
목차
등록된 정보가 없습니다.
참고문헌 (0)
참고문헌 신청함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases
Annals of Laboratory Medicine
2018 .01
-
무증상 신생아에서 진단된 경쇄 acyl-CoA 탈수소효소 결핍증 1례
대한유전성대사질환학회지
2015 .01
-
무증상의 경쇄 acyl-CoA 탈수소효소 결핍증 1례
대한유전성대사질환학회지
2015 .01
-
A Case of Short-chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening
대한유전성대사질환학회지
2015 .01
-
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency
Annals of Laboratory Medicine
2017 .01
-
TRAIL Suppresses Human Breast Cancer Cell Migration via MADD/CXCR7
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing
대한유전성대사질환학회지
2019 .01
-
무증상 신생아에서 진단된 중쇄 acyl-CoA 탈수소효소 결핍증 1례
대한유전성대사질환학회지
2015 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2
Journal of genetic medicine
2017 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea
Annals of Laboratory Medicine
2015 .01
-
Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori
Gut and Liver
2021 .01
-
Dental Management in a Child Patient with Glucose-6-phosphate Dehydrogenase Deficiency : A Case Report
대한소아치과학회지
2021 .08
-
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Clinical Hypertension
2020 .01
-
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
Journal of Clinical Neurology
2018 .01
-
Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar
Parasites, Hosts and Diseases
2023 .05
-
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
2017 .01
-
Glucose-6-phosphate dehydrogenase deficiency does not increase the susceptibility of sperm to oxidative stress induced by H<sub>2</sub>O<sub>2</sub>
Clinical and experimental reproductive medicine : CERM
2016 .01
최근 본 자료
댓글(0)
0