Brian

Maple Syrup Urine Disease

__ What is it? __ - Maple Syrup Urine Disease is an autosomal recessive disorder that affects a persons metabolism caused by a gene defect. People who have this condition cannot break down the amino acids leucine, isoleucine, and valine. Not being able to digest these amino acids leads up to a buildup of them in the blood. The urine of people with this condition can smell like maple syrup.In it's most harsh form, maple syrup urine disease can cause injury to the brain. Some different kinds of maple syrup urine disease may be minor, or not as bad as other types, and can show up at one point, and return at another. A mild form of maple syrup urine disease, and recurrent stress, can increase levels of amino acids, and cause mental retardation.

__ Symptoms __ - Vomiting, - Avoiding food - Coma - Feeding difficulties - Lethargy - Seizures - Urine that smells like maple syrup __ Treatment __ -"Treatment involves eating a protein-free diet. Fluids, sugars, and fats are given through a vein. Different types of dialysis can be used to reduce amino acid levels. A special diet free of branched-chain amino acids is started when amino acid levels are normal. The health care provider will follow these levels closely, and will adjust the diet based on amino acid levels. Long term treatment requires a special diet. A man-made infant formula with low levels of leucine, isoleucine, and valine are included in the diet. People with this condition have to be on this diet permanently. Following the diet it is important to prevent brain damage, this requires supervision by parents, physicians, and frequent blood tests." []

__ Statistics __ -MSUD is listed as a rare disease, which means that MSUD, or a subtype of it, affect less than 200,000 people in the U.S. population. -One in every 200,000 babies born in the U.S. is born with MSUD. __ Other Names for MSUD __ -Branched Chain Ketoaciduria -Branched Chain Alpha-Keto Dehydrogenase Deficiency -BDKD Deficiency __ Other forms of MSUD __ -Intermittent Branched-Chain Ketoaciduria -Intermediate Branched-Chain Ketoaciduria -Thiamine Responsive MSUD -MSUD Type 1B -MSUD Type II *less common than the classic type(all) __ Life Expectancy __ - A person who has maple syrup urine disease can die as a baby if the disease is not treated. If the maple syrup urine disease is treated, the person is expected to have a normal life span, although there is still a risk of dying.

__ References __ [|http://www.health.state.mn.us/divs/fh/mcshn/ncfu/cond/msud.htm#13]

[]

[]

[]

[]