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the syrup diease

Posted by on Dec. 17, 2013 at 8:46 PM
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1 mom liked this
aple 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.

Causes
Maple 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 intellectual disability and high levels of leucine.

Symptoms
Avoiding food
Coma
Feeding difficulties
Lethargy
Seizures
Urine that smells like maple syrup
Vomiting
Exams and Tests
Plasma amino acid test
Urine amino acid test
There will be signs of ketosis and excess acid in blood (acidosis).

Treatment
When 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.

Outlook (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.

Possible Complications
Coma
Death
Neurological damage
When to Contact a Medical Professional
Call 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.

Prevention
Genetic 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.

Alternative Names
MSUD

References
Wendel 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.

Update Date: 5/15/2011
Updated by: 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.

Browse the Encyclopedia
MedlinePlus Topics
Genetic Brain Disorders
Read More
Acidosis
Amino acids
Metabolism
Seizures
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This is interesting.
by on Dec. 17, 2013 at 8:46 PM
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Anonymous
by Anonymous 1 on Dec. 17, 2013 at 8:49 PM
1 mom liked this
There are a number of metabolic disorders which involve the body's inability to metabolize specific amino acids. Phenylketonuria, for example, is similar to MSUD though the patient cannot metabolize phenylalanine. This why the heel prick test at birth is SO important. These metabolic disorders are easily caught through newborn screenings.
angiejones256
by on Dec. 17, 2013 at 10:04 PM
Ahhhh thats good to know.

Quoting Anonymous: There are a number of metabolic disorders which involve the body's inability to metabolize specific mini acids. Phenylketonuria, for example, is similar to MSUD though the patient cannot metabolize phenylalanine. This why the heel prick test at birth is SO important. These metabolic disorders are easily caught through newborn screenings.
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