Medium chain acyl CoA dehydrogenase deficiency Save
ICD-10 code: E71.311
Disease category: E71.31: Disorders of fatty-acid oxidation
Understanding Medium Chain Acyl CoA Dehydrogenase Deficiency
Medium Chain Acyl CoA Dehydrogenase (MCAD) deficiency is a rare genetic disorder that affects the body's ability to break down fats for energy. It is an inherited condition caused by a mutation in the ACADM gene, which leads to the deficiency of an enzyme called medium chain acyl CoA dehydrogenase.
MCAD deficiency primarily affects the mitochondria, the powerhouse of cells responsible for producing energy. Without enough of the medium chain acyl CoA dehydrogenase enzyme, the body struggles to convert medium-chain fatty acids into energy, leading to a buildup of these fatty acids in the body.
Signs and symptoms of MCAD deficiency usually appear during infancy or early childhood. Common symptoms include episodes of low blood sugar (hypoglycemia), vomiting, lethargy, and lack of energy. In severe cases, MCAD deficiency can lead to life-threatening complications such as seizures and liver dysfunction.
Diagnosing MCAD deficiency involves a series of tests, including blood tests and genetic testing. Newborn screening programs in many countries now include MCAD deficiency, allowing early detection and intervention.
- Proper management and prevention
- Understanding dietary needs
- Preventing metabolic crises
- Regular monitoring and follow-up
There is currently no cure for MCAD deficiency, so treatment focuses on managing symptoms and preventing complications. It involves a carefully controlled diet that ensures a sufficient intake of carbohydrates and regular meals to prevent fasting and avoid triggering metabolic crises. In some cases, supplemental medium-chain triglycerides may be recommended to provide a source of easily digestible fats.
It is essential for individuals with MCAD deficiency and their families to work closely with healthcare professionals, including metabolic specialists and registered dietitians, to develop an appropriate management plan. Regular monitoring and follow-up are crucial to prevent metabolic crises and ensure the best possible outcomes for affected individuals.
In conclusion, Medium Chain Acyl CoA Dehydrogenase deficiency is a rare genetic disorder that affects the body's ability to break down fats for energy. Timely diagnosis, proper management, and close medical supervision are key to preventing complications and maintaining the health and well-being of individuals with MCAD deficiency.
Treatment of Medium chain acyl CoA dehydrogenase deficiency:
Treatment Options for Medium Chain Acyl CoA Dehydrogenase Deficiency
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) is a rare genetic disorder that affects the body's ability to break down certain fats for energy. It is important to understand the available treatment options for individuals diagnosed with MCADD to manage their condition effectively.