A Young Female With Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case Report

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. MCAD is essential for fatty acid j3-oxidation during hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores are exhausted during extended fasting and periods of increased energy demand. The inability to metabolize these fatty acids results in hypoketotic hypoglycemia and the accumulation of toxic partially metabolized fatty acids. Intercurrent infection, extended fasting, excessive alcohol intake, vomiting, or diarrhea can lead to serious illness, including encephalopathy and even sudden death. Young people with MCADD are followed up on a regular basis by their metabolic disease specialist, and they are informed about risk factors as they advance through adolescence and adulthood. They should also carry along a written emergency management plan and relevant contact numbers. We describe a case of a 17-year-old female who attended her local emergency care center complaining of severe abdominal pain, vomiting, muscle ache, and poor oral intake. She was known to have MCADD; however, her emergency care plan had a date from eight years ago. She made a rapid recovery after receiving intravenous glucose and other therapies. The patient's concerns and knowledge about MCADD were not fully appreciated at the initial stage due to the rare nature of the disease. This in combination with the absence of current notes on the system, an emergency care plan dated from eight years ago, and the need to obtain specialist advice led to a slight delay in commencing specific therapy. This case report serves as a reminder of the emergency presentation of young people with MCADD, emphasizing the importance of effective communication between the patient, their parents, and the treating clinicians, obtaining the emergency care plan and recommendations, and communicating with the metabolic disease specialist.

Automated summary

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare autosomal recessive genetic disease involving impaired fatty acid metabolism. It can lead to hypoketotic hypoglycemia and the accumulation of toxic fatty acids. This case report highlights the importance of effective communication between the patient, their parents, and the treating clinicians, obtaining the emergency care plan and recommendations, and communicating with the metabolic disease specialist.