Abnormal muscle movements, spasms that cause a backward arching of the head, neck and spine.Changes in muscle tone – poor muscle tone, muscle tightness/tension.Poor feeding, vomiting, loss of appetite, irritability.(This disorder got its name from this common symptom.) This may not always be present in all types. Urine, sweat, or earwax that smells like maple syrup or burnt sugar.All four types of MSUD have symptoms including: In older children, signs of intermediate, intermittent, and thiamine-responsive MSUD usually develop before age seven. Symptoms of classic MSUD appear in newborns within 48 hours of birth. What are the symptoms of maple syrup urine disease (MSUD)? These groups have a higher concentration of people who are carriers of the mutated gene. MSUD occurs more often in communities that have little genetic variation (such as the Mennonite community in the United States). This leads to the serious health problems seen in MSUD. Without the needed enzymes, the three amino acids build up and so do their toxic byproducts (called ketoacids). These three specific amino acids are leucine, isoleucine and valine. ![]() These mutations result in little to no activity of enzymes needed to break down three specific amino acids that are in protein-rich foods. ![]() A child is born with MSUD when both parents are carriers of three specific gene mutations (changes) and their child inherits copies of these altered genes – one copy from each parent. ![]() MSUD is inherited (passed on) through families. How do people get maple syrup urine disease (MSUD)? MSUD occurs in 1 of every 380 births in the Mennonite population. For this reason, MSUD frequently occurs among Mennonites in the United States, where members of the community often marry each other. MSUD can affect anyone, but people whose parents are closely related are much more likely to have the metabolic disease. Who is affected by maple syrup urine disease (MSUD)? About 2,000 people in the United States live with MSUD. It appears more often in populations with a small gene pool or when cousins and other close relatives have children together. It occurs in about 1 of every 185,000 births worldwide. How common is maple syrup urine disease (MSUD)? With treatment, people with thiamine-responsive MSUD have higher tolerance for the three amino acids.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |