These genes provide instruction for the human body to make enzymes (BCKDH complex enzymes) which are essential for breaking down amino acids including leucine, isoleucine, and valine. Maple syrup urine disease is caused by mutations in one of three genes – BCKDHA, BCKDHB or DBT. MSUD is believed to affect 1 in 380 people in the Old Order Mennonite population and 1 in 26,000 in the Ashkenazi Jewish population. MSUD is more common in the Mennonite population in comparison to the general population. MSUD is believed to affect 1 in 185,000 births worldwide. Babies who receive abnormal results from early metabolic screening tests may be referred to the Newborn Metabolic Screening Program at Children’s Hospital of Philadelphia. A heel-prick is used to obtain a sample of the baby’s blood and tested for abnormally high levels of amino acids. Pennsylvania, New Jersey and Delaware all require newborn screening for maple syrup urine disease. In most cases, MSUD is diagnosed at birth as part of routine newborn screening tests, which are required in many states. However, even with treatment, some children with this disease can suffer severe disability and paralysis. In most cases, MSUD can be successfully managed with a specialized diet that breaks down the three specific amino acids – leucine, isoleucine and valine – preventing them and their toxic by-products from accumulating abnormally in the blood. Therefore, early detection and treatment essential. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening – as early as the first two weeks of life.
Maple syrup urine disease is a rare inherited disorder caused by the body’s inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby's urine.
0 kommentar(er)
