![]() People participate in clinical trials for many reasons. Additionally, you can use to search for clinical studies by disease, terms, or location. To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Healthy volunteers may participate to help others and to contribute to moving science forward. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. ![]() MSUD is often diagnosed based on the results of a newborn screening test. ![]() Diagnosis of MSUD is based on the symptoms, clinical exam, and blood and urine testing. It is inherited in an autosomal recessive pattern. MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. The symptoms of other forms of MSUD start in adolescence or adulthood. The earwax and urine of infants with MSUD smells like maple syrup. Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. The most common is the classic or infantile form. This leads to the build-up of toxic substances that can cause organ and brain damage. Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |