![]() Any amino acids that are not needed are usually broken down and removed from the body. ![]() Normally, your body breaks down protein foods such as meat and fish into amino acids. Maple syrup urine disease occurs in the Ashkenazi Jewish population with an incidence estimated at 1:26,000 live births. Due to a founder effect, the disorder occurs with greater frequency among individuals in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns 1. Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide 1. Maple syrup urine disease affects males and females in equal numbers. Early diagnosis and treatment stabilizes the infants and, if well performed, can largely mitigate against serious metabolic decompensations and long-term complications. Where such screening is not available, infants with maple syrup urine disease usually present with the neurological signs in an advanced state. Newborn Screening for maple syrup urine disease is performed throughout the US and in many other countries so that most such infants are detected through these programs. If untreated, maple syrup urine disease can lead to seizures, coma, and death. Maple syrup urine disease is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, symptoms begin to emerge, often within the first 24-48 hours of life. One of the characteristic symptoms of maple syrup urine disease is sweet-smelling urine, which gives the condition its name. In the classic, severe form of maple syrup urine disease, the plasma concentrations of the BCAAs begin to rise within a few hours of birth. The result of this metabolic failure is that all three branched-chain amino acids (BCAAs), along with their various byproducts, accumulate abnormally throughout the body. Maple syrup urine disease is a rare but serious inherited condition or genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to break down (metabolize) the three branched-chain amino acids (BCAAs) in the body. Liver transplant What is maple syrup urine disease
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |