New insight in lipid storage myopathy

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Lipid storage myopathy (LSM) is characterized by excessive lipid droplet accumulation in muscle fibers.
• Multiple acyl-CoA dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group of disorders caused by mutations in ETF and ETFQO.
• Late-onset MADD from ETFQO mutations is increasingly recognized as a primary cause of LSM.

Purpose of the Study:

• To review recent advances in understanding LSM.
• To highlight the role of MADD and MADD-like disorders in LSM.
• To summarize clinical, pathological, biochemical, and molecular features and treatment outcomes.

Main Methods:

• Literature review of studies on LSM and MADD.
• Analysis of clinical, pathological, biochemical, and molecular data.
• Focus on recent findings in MADD-like disorders.

Main Results:

• MADD, particularly late-onset ETFQO mutations, is a significant cause of LSM.
• MADD-like disorders are also implicated in LSM pathogenesis.
• The review consolidates current knowledge on LSM etiologies.

Conclusions:

• MADD and MADD-like disorders are crucial considerations in diagnosing and managing LSM.
• Further research into MADD-like disorders can improve understanding and treatment of LSM.
• This review provides a comprehensive overview of LSM with diverse etiologies.