Classic Maple Sugar Urine Disease Research Paper

Maple Sugar Urine Disease

Classic Maple Sugar Urine Disease or MSUD is a genetic amino acid disorder in which body isn’t able to break down the amino acids found in proteins such as leucine, isoleucine and valine. MSUD is also referred to as branched chain ketoaciduria. BCKADs or Branched-Chain Alpha-Keto Acid Dehydrogenase are enzymes that break down those amino acids. This causes the urine to smell like maple syrup. When these amino acids build up in the blood they cause complications. These amino acids are found in foods like beans, cheese, turkey, wild game, sausage and milk. In fact, babies born with MSUD will drink a manmade formula that is isoleucine-free, leucine-free, and valine-free for the dietary management of maple syrup
The first symptoms may include a poor appetite, weak suck, weight loss, high-pitched cry or urine that smells like maple syrup or burnt sugar. Babies with MSUD have episodes of illness called metabolic crisis. This is a serious health condition caused by low blood sugar and the buildup of toxins in the blood. The first symptoms of metabolic crisis in babies are; extreme sleepiness, sluggishness, irritability and vomiting. The symptoms are similar to an adult with the disease which include; avoiding food, lethargy, vomiting and urine that smells like maple
Genetic testing is offered to families who believe they may have the defective gene that causes MSUD for future pregnancies. This DNA testing isn’t necessary to diagnose the child. A prenatal diagnosis involves testing the amniotic fluid surrounding the baby in the womb. They test for enzyme activity in cultured aminocytes or chorion villus cells that are rich in stem cells or mutation analysis. Newborns are screened by a blood sample taken from the heel and analyzed for high leucine levels. A urine amino acid test will reveal signs of ketosis, a high level of ketone bodies and acidosis, an excess amount of acid in the