Literature DB >> 35618995

Features and diagnostic value of body composition in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Wei Zheng1, Xue Li1, Shiyi Yang1, Cheng Luo2, Fei Xiao3.   

Abstract

OBJECTIVE: This study aims to analyse the body composition features and its changes after treatment in patients with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD).
METHODS: Body composition was measured in patients with late-onset MADD, inflammatory myopathies, mitochondrial myopathy, and healthy controls. The correlation analyses between body composition and traditional parameters were performed. Comparisons between groups and receiver operating characteristic curve analyses were performed.
RESULTS: A total of 42 participants included 13 patients with late-onset MADD, 13 healthy controls, 10 with inflammatory myopathy, and 6 with mitochondrial myopathy. Bilateral grip strength and forced vital capacity (FVC) were moderate-strong correlated with skeletal muscle mass (right hand grip strength: r = 0.728, P < 0.001; left hand grip strength: r = 0.676, P < 0.001; FVC: r = 0.754, P < 0.001). Serum CK was moderately and negatively correlated with right hand grip strength (r = - 0.618, P = 0.005), left hand grip strength (r = - 0.630, P = 0.004), FVC (r = - 0.665, P = 0.002), manual muscle testing (MMT) (r = - 0.729, P = 0.000), and lean body mass skeletal muscle percentage (r = - 0.501, P = 0.029). Body composition features in patients with late-onset MADD were as follows: (1) obvious fat accumulation, (2) reduction of muscle mass, and (3) reduction of body water and intracellular water ratio. Some indicators of body composition were found to be valuable in diagnosis and eliminating differential diagnoses, such as visceral fat area (sensitivity 84.62%; specificity 92.31%; AUC 0.905) and fat mass (sensitivity 84.62%; specificity 75.00%; AUC 0.837). Seven patients were followed-up (2-9 months). Prior to treatment, the changes in body composition in these patients were conflicting.
CONCLUSIONS: Hand grip strength and FVC were strongly associated with body composition. Body composition features in late-onset MADD are fat accumulation, muscle loss, decrease in total body water, and intracellular water ratio. Body composition features are valuable for diagnosis and assessment.
© 2022. The Author(s) under exclusive licence to Belgian Neurological Society.

Entities:  

Keywords:  Bioelectrical impedance analysis; Diagnosis; Follow-up studies; Multiple acyl-CoA dehydrogenase Deficiency

Mesh:

Substances:

Year:  2022        PMID: 35618995     DOI: 10.1007/s13760-022-01974-5

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN: 0300-9009            Impact factor:   2.471


  29 in total

1.  Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Authors:  Jianying Xi; Bing Wen; Jie Lin; Wenhua Zhu; Sushan Luo; Chongbo Zhao; Duoling Li; Pengfei Lin; Jiahong Lu; Chuanzhu Yan
Journal:  J Inherit Metab Dis       Date:  2013-12-20       Impact factor: 4.982

2.  Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.

Authors:  F E Frerman; S I Goodman
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

3.  Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Authors:  Yılmaz Yıldız; Beril Talim; Goknur Haliloglu; Haluk Topaloglu; Zuhal Akçören; Ali Dursun; Hatice Serap Sivri; Turgay Coşkun; Ayşegül Tokatlı
Journal:  Pediatr Neurol       Date:  2019-06-28       Impact factor: 3.372

4.  Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.

Authors:  Duo Zhou; Meiling Ye; Zhenzhen Hu; Yu Zhang; Lin Zhu; Rulai Yang; Xinwen Huang
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2021-08-25

Review 5.  Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

Authors:  Min Zhu; Xuan Zhu; Xueliang Qi; Ding Weijiang; Yajing Yu; Hui Wan; Daojun Hong
Journal:  J Hum Genet       Date:  2014-02-13       Impact factor: 3.172

6.  Clinical and genetic analysis of lipid storage myopathies.

Authors:  Aya Ohkuma; Satoru Noguchi; Hideo Sugie; May Christine V Malicdan; Tokiko Fukuda; Kunio Shimazu; Luis Carlos López; Michio Hirano; Yukiko K Hayashi; Ikuya Nonaka; Ichizo Nishino
Journal:  Muscle Nerve       Date:  2009-03       Impact factor: 3.217

7.  ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Authors:  Rikke K J Olsen; Simon E Olpin; Brage S Andresen; Zofia H Miedzybrodzka; Morteza Pourfarzam; Begoña Merinero; Frank E Frerman; Michael W Beresford; John C S Dean; Nanna Cornelius; Oluf Andersen; Anders Oldfors; Elisabeth Holme; Niels Gregersen; Douglass M Turnbull; Andrew A M Morris
Journal:  Brain       Date:  2007-06-20       Impact factor: 13.501

8.  Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Authors:  Hong-Xia Fu; Xin-Yi Liu; Zhi-Qiang Wang; Ming Jin; Dan-Ni Wang; Jun-Jie He; Min-Ting Lin; Ning Wang
Journal:  Neurol Sci       Date:  2016-03-21       Impact factor: 3.307

9.  Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.

Authors:  Zhaoxia Wang; Daojun Hong; Wei Zhang; Wurong Li; Xin Shi; Danhua Zhao; Xu Yang; He Lv; Yun Yuan
Journal:  Neuromuscul Disord       Date:  2015-12-18       Impact factor: 4.296

10.  Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.

Authors:  Xin-Yi Liu; Ming Jin; Zhi-Qiang Wang; Dan-Ni Wang; Jun-Jie He; Min-Ting Lin; Hong-Xia Fu; Ning Wang
Journal:  Chin Med J (Engl)       Date:  2016-06-20       Impact factor: 2.628

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.