Late-onset multiple acyl-coenzyme A dehydrogenase deficiency
10.3760/cma.j.cn113694-20240824-00576
- VernacularTitle:晚发型多种酰基辅酶A脱氢酶缺乏症
- Author:
Junhong GUO
1
;
Wei ZHANG
1
Author Information
1. 山西医科大学第一医院神经内科，太原 030001
- Publication Type:Journal Article
- Keywords:
Multiple acyl coenzyme A dehydrogenase deficiency;
Lipid storage myopathy;
ETFDH mutation;
Riboflavin
- From:
Chinese Journal of Neurology
2025;58(4):430-433
- CountryChina
- Language:Chinese
-
Abstract:
Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD), as an autosomal recessive inherited disorder of fatty acid metabolism, is the most common type of lipid storage myopathies in China and manifests fluctuating muscle weakness and exercise intolerance. The majority of late-onset MADD are predominantly caused by defects in electron transfer flavoprotein dehydrogenase (ETFDH). Although late-onset MADD is an inherited disease, several factors in addition to genetic mutations contribute to the disease, and riboflavin deficiency plays a crucial role in the pathogenesis of the disease. Most patients with late-onset MADD respond well to riboflavin treatment.
