Glutaric aciduria type II Save

Understanding Glutaric Aciduria Type II

Glutaric aciduria type II, also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare genetic condition that affects the body's ability to break down certain fats and proteins. It is caused by a deficiency of enzymes that are necessary for the metabolism of these substances.

People with glutaric aciduria type II can experience a range of symptoms, including muscle weakness, fatigue, and exercise intolerance. They may also have respiratory problems, difficulty feeding, and developmental delays. In severe cases, the condition can lead to heart and liver failure.

Diagnosis of Glutaric Aciduria Type II

Diagnosing glutaric aciduria type II can be challenging, as the symptoms can be similar to those of other conditions. Doctors may use a combination of blood tests, urine tests, and genetic testing to make a definitive diagnosis.

Treatment of Glutaric Aciduria Type II

There is no cure for glutaric aciduria type II, and treatment typically focuses on managing symptoms and preventing complications. This may involve a combination of medications, dietary changes, and physical therapy.

Conclusion

Glutaric aciduria type II is a rare genetic condition that can have serious consequences if left untreated. While there is no cure for the condition, early diagnosis and treatment can help manage symptoms and prevent complications. If you or someone you know is experiencing symptoms of glutaric aciduria type II, it is important to speak with a healthcare professional as soon as possible.

1. "Glutaric acidemia type II." Genetics Home Reference. U.S. National Library of Medicine, 8 Aug. 2016. Web. 10 May 2021.
2. "Multiple acyl-CoA dehydrogenase deficiency." Orphanet. European Rare Diseases Organisation, 2005. Web. 10 May 2021.