Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report

• DOI: 10.3389/fneur.2022.991060
• Publication Date: 2022-12-15T15:30:00Z
• Authors: Huihong Tian; Yi Zhong; Zhihua Liu; Liping Wei; Yanbo Yuan; Yuhu Zhang; Limin Wang
• Keywords: 0301 basic medicine; whole genome sequencing; 03 medical and health sciences; ETFDH; Neurology; multiple acyl-CoA dehydrogenase deficiency; Neurology (clinical); Neurology. Diseases of the nervous system; lipid storage myopathy; riboflavin; RC346-429; 3. Good health

Background Lipid storage myopathy (LSM) is an autosomal recessive inherited lipid and amino metabolic disorder with great clinical heterogeneity. Variations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene cause multiple acyl-CoA deficiency (MADD), have a manifestation of LSM. Muscle biopsy helps clarify diagnosis LSM, next-generation sequencing (NGS) can be useful identifying genomic mutation sites. The MADD contributes to targeted therapy. Case presentation We report on teenager who appeared muscle weakness exercise intolerance at onset. Before referral our hospital, he was unsuccessfully treated glucocorticoid for suspected polymyositis. proband his parents revealed heterozygous variations, c.365G>A (p.G122D) from father, c.176-194_176-193del, c.832-316C>T mother ETFDH gene. tandem mass spectrometry identified mutations pathogenic. However, younger sister were detected presented no symptoms. This indicates that combination three compound significant. After diagnosed, dramatic recovery biochemical improvement as riboflavin given patient across week, which further confirmed MADD. Conclusion Our observations extend spectrum variants Chinese population reinforce role NGS Early appropriate treatment LSM lead efficacy avoid some lethal complications.