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 urine disease. The most common form of Maple Sugar Urine Disease is Classic MSUD. All subtypes of MSUD: MSUD Type 1b, MSUD Type II and Thiamine Responsive MSUD vary in its severity and characteristics of the disease can all be caused by mutations to the BCKD complex.
MSUD cannot be contracted; it is an inherited disease that you are born with. A child who has been born with MSUD must have inherited a defective copy of the gene from each parent, mother and father. The chance of parents who have tested positive for the defective gene responsible for MSUD children have a 25% chance of getting the disease and a 50% chance of being a carrier.
The symptoms of MSUD will appear in a newborn after its first encounters with protein (milk). 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;