Short chain acyl CoA dehydrogenase deficiency Save

Understanding Short Chain Acyl CoA Dehydrogenase Deficiency

Short Chain Acyl CoA Dehydrogenase Deficiency (SCADD) is a rare genetic metabolic disorder that affects the body's ability to convert certain fats into energy. This condition is caused by a deficiency of an enzyme called short-chain acyl-CoA dehydrogenase, which is involved in the breakdown of fatty acids in the body.

The symptoms of SCADD can vary widely from person to person, and some affected individuals may not experience any symptoms at all. However, some common symptoms of SCADD include developmental delays, low muscle tone, vomiting, and low blood sugar levels. In some cases, individuals with SCADD may also experience muscle weakness, difficulty breathing, and seizures.

1. Cause: SCADD is caused by a genetic mutation that affects the production of the short-chain acyl-CoA dehydrogenase enzyme. This mutation can be inherited from one or both parents.
2. Diagnosis: Diagnosis of SCADD is typically made through newborn screening tests, which can detect elevated levels of certain organic acids in the blood. Additional testing may include genetic testing and enzyme analysis.
3. Treatment: Currently, there is no cure for SCADD. Treatment typically involves managing symptoms through dietary changes, such as avoiding fasting and consuming a low-fat diet. Regular monitoring and follow-up care are also important for individuals with SCADD.

It is important to note that while SCADD is a serious condition, with proper management and care, individuals with this disorder can lead healthy and fulfilling lives. If you suspect that you or a loved one may have SCADD, it is important to speak with a healthcare provider for proper diagnosis and treatment.