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Maple syrup urine disease (MSUD) is a genetically inherited metabolic disease. Its name is derived from one of the hallmark symptoms—urine that smells like maple syrup. MSUD is caused by a mutation of four genes—BCKDHA, DLD, BCKDHB and DBT—that are involved in protein production. As a result, the patient cannot process three types of amino acids: valine, leucine and isoleucine. Unable to be broken down, the chemicals build up in the patient's blood. MSUD has an autosomal recessive pattern of inheritance, meaning that the patient must receive a copy of the mutated genes from each parent.
MSUD is a rare disease that starts during infancy, affecting one in 185,000 children in the world, according to the Genetics Home Reference; however, MSUD has a higher rate of incidence in the Old Order Mennonite population, affecting one in 380 infants. Besides the sweet smelling urine, the patient can also experience vomiting and lethargy. Parents will notice that their child is avoiding food and has problems eating. Other serious symptoms include seizures and a coma. Untreated MSUD can result in brain damage, causing some patients to have developmental delays.
The National Institutes of Health (NIH) states that there are three forms of severity with MSUD: mild, intermittent and severe. With all three forms, neurological damage is possible if amino acid levels are not controlled. The trigger of the brain damage is physical stress, such as from an illness or the patient not eating. For example, if the patient has a mild form of MSUD but has repeated incidents of physical stress, she can have mental retardation and high levels of leucine. With a severe case of MSUD, significant brain damage can occur.
Treatment for MSUD involves a strict diet. At diagnosis and during episodes of MSUD (where the patient has symptoms), the patient must follow a protein-free diet. Fluids, sugars and some fats are administered via an IV. The NIH adds that peritoneal dialysis and hemidialysis may be used if the patient has high levels of amino acids. At other times, the patient follows a special diet that has low levels of valine, leucine and isoleucine, which must be used for the rest of the patient's life. If the diet is followed, then there should not be severe neurological damage. The NIH warns, however, that untreated MSUD is life threatening, and death can occur during an episode triggered by severe physical stress.
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Elizabeth Stannard Gromisch received her bachelor’s of science degree in neuroscience from Trinity College in Hartford, CT in May 2009. She is the Hartford Women's Health Examiner and she writes about abuse on Suite 101.
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