Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.
Alternative NamesMSUD
Causes, incidence, and risk factorsMaple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branched-chain amino acidsleucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).
MSUD also occurs in an intermittent form and a mild form. Even in the mildest form, repeated periods of physical stress can cause mental retardationand high levels of leucine.
SymptomsSigns and testsThere will be signs of ketosis and excess acid in blood (acidosis).
TreatmentWhen the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of amino acids.
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. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.
It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.
Expectations (prognosis)This disease can be life threatening if untreated.
Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into healthy adulthood.
ComplicationsCall your health care provider if you have a family history of MSUD and are planning to start a family. Also call immediately if you have a newborn who has symptoms of maple syrup urine disease.
PreventionGenetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Many states now screen all newborns with blood tests for MSUD.
If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease.
ReferencesWendel U, Ogier de Baulny H. Branched-chain organic acidurias/acidemias. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer; 2006:chap 19.
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.
Alternative NamesMSUD
Causes, incidence, and risk factorsMaple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).
Some types of MSUD are mild or come and go. Even in the mildest form, repeated periods of physical stress can cause mental retardation and high levels of leucine.
SymptomsSigns and testsThere will be signs of ketosis and excess acid in blood (acidosis).
TreatmentWhen the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of amino acids.
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. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.
It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.
Expectations (prognosis)This disease can be life threatening if untreated.
Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into healthy adulthood.
ComplicationsCall your health care provider if you have a family history of MSUD and are planning to start a family. Also call immediately if you have a newborn who has symptoms of maple syrup urine disease.
PreventionGenetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Many states now screen all newborns with blood tests for MSUD.
If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease.
ReferencesWendel U, Ogier de Baulny H. Branched-chain organic acidurias/acidemias. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer; 2006:chap 19.
Reviewed ByReview Date: 05/15/2011
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
no
There is a disease called Maple Syrup Urine Disease that is associated with mental retardation, but this has nothing to do with eating maple syrup. It is caused by a missing enzyme due to a genetic defect resulting in substances in the urine that make it smell like maple syrup. This is a disease people are born with. It is not acquired and has nothing to do with diet.
Megan Fox and Pamela Anderson
Both boys and girls get it, and baby
none
Maple Syrup Urine Disease (MSUD) was discovered by John Menkes in 1954. This is a disorder whereby there is a disruption in the metabolism of branched-chained amino acids.
So far, no famous person does.
Yes, there are several different mutations that can cause it.
Maple syrup urine disease (MSUD) is ametabolismdisorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down theamino acidsleucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
no it can also occur in dogs and cats and adultd
yes
It is a genetic disease caused by a mutation in a chromosome. You do not catch it.