COASY

Description

The COASY gene provides instructions for making an enzyme called coenzyme A synthase. This enzyme is crucial for the production of coenzyme A (CoA), a vital molecule involved in numerous metabolic pathways. CoA plays a critical role in energy production, the breakdown of carbohydrates, fats, and proteins, and the synthesis of essential molecules like fatty acids and cholesterol. Mutations in the COASY gene can disrupt CoA synthesis, leading to various health issues.

Associated Diseases

• Multiple acyl-CoA dehydrogenase deficiency (MADD)
• 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD)
• Glutaric acidemia type 1 (GA1)
• Propionic acidemia (PA)
• Methylmalonic acidemia (MMA)
• Citrullinemia type 1
• Argininosuccinic aciduria
• Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (HHH syndrome)
• Carnitine palmitoyltransferase deficiency (CPT deficiency)

Did you know?

The COASY gene is a good example of how a single gene can have a profound impact on human health due to its role in a fundamental metabolic process.