Analysis of the clinical, pathological and genetic features of patients with myopathy-type very long chain acyl-coenzyme A dehydrogenase deficiency
10.3760/cma.j.cn113694-20220811-00605
- VernacularTitle:肌病型极长链脂酰辅酶A脱氢酶缺乏症患者临床、病理及遗传学特点分析
- Author:
Mi PANG
1
;
Jun FU
;
Jia SONG
;
Gang LI
;
Yan LU
;
Jiewen ZHANG
;
Mingming MA
Author Information
1. 河南省人民医院神经内科，郑州 450003
- Keywords:
Acyl-CoA dehydrogenase, long-chain;
Rhabdomyolysis;
Gene
- From:
Chinese Journal of Neurology
2023;56(2):143-150
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical, pathological and genetic characteristics of myopathy-type very long chain acyl-coenzyme A dehydrogenase deficiency (VLCADD).Methods:The detailed clinical data, muscle biopsy pathology and molecular results of 4 patients with genetically confirmed myopathy-type VLCADD admitted to Henan Provincial People′s Hospital and Xuanwu Hospital, Capital Medical University from June 2014 to November 2019 were retrospectively analyzed.Results:All of the 4 patients were late-onset myopathy-type VLCADD. The onset age ranged from 13 to 16 years, with a mean age of 14.5 years. The age at diagnosis ranged from 21 to 54 years, with a mean age of 42.5 years. The main clinical manifestation was repeated rhabdomyolysis, including myalgia, weakness and dark urine. Obvious somnolence was observerd in 1 patient. Muscle biopsy pathology revealed mild lipid accumulation, without vacuoles. Six ACADVL variations were detected in the 4 patients, including c.1283G>A (p.R428H), c.1532G>A (p.R511Q), c.833_835delAGA (p.K278del), c.1843C>T (p.R615 *), c.1748C>T (p.S583L) and c.1391C>T (p.T464I),among which c.1391C>T (p.T464I) was a novel variation, predicted to be likely pathogenic. Other 5 variations were reported pathogenic variations. Conclusions:Myopathy-type VLCADD is characterized by paroxysmal rhabdomyolysis and can be associated with somnolence. There is no specificity in muscle pathology. There are ACADVL variations, among which c.1391C>T is a novel variation.
