Conditions

Inherited Metabolic Disorder Societies:

 

SSIEM.ORG

Society for the Study of Inborn Errors of Metabolism: The International charity organisation that conducts research and promotes exchange between professional workers who are interested in metabolic disease. Website

 

BIMDG
British Inherited Metabolic Disease Group: Promotes the improvement of the provision of services for patients with inherited metabolic disorders. Website


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MSUD - Maple Syrup Urine Disease

MSUD - Maple syrup urine disease is a disorder of the metabolism. It is an inherited condition in which the body fails to break down particular components of proteins. The curious name comes from the observation that the urine of sufferers smells similar to maple syrup.

Symptoms

Avoiding food - Coma - Feeding problems - Lethargy - Seizures - Urine with an odour of maple syrup - Vomiting

Causes of MSUD

The disease is caused by a defective gene. People with this condition are unable to break down the branched-chain amino acids leucine, isoleucine, and valine. This leads to an excess of these chemicals in the blood.

MSUD is capable of damaging the brain during times of physical illness (such as avoiding food for an extended period, infection, or fevers), but only in the most severe cases.
It can also occur intermittentantly and in a mild condition. Even with mild conditions, infections can still cause mental retardation and produce high levels of leucine.

Treatment

The main form of treatment is to provide a protein-free diet. During a flare up, fluids, sugars, and fats are given intravenously. The excess of amino acids is reduced via Peritoneal dialysis or hemodialysis.

A special diet free from branched-chain amino acids is started immediately.
Treatment in the long term consists of maintaining a special diet. People with MSUD must remailn on this diet permanently.

The diet includes a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine. It is essential to always remain on the diet to prevent neurological damage. Frequent blood tests need to be taken under close supervision by a registered dietitian and a physician, and the cooperation of the parents.

Outlook

The disease can be life threatening if left untreated.

Even with dietary treatment, death can occur during episodes of illness and during stressful situations when high levels of certain amino acids can still be produced. With strict dietary regime, children have matured into healthy adulthood.

Should You Contact Your Doctor?

Make an appointment to see your doctor if you know you have a family history of MSUD and are planning to start a family. Call immediately if you have a newborn who displays symptoms suggestive of maple syrup urine disease.

Prevention

For those who are planning to have children and have a family history of MSUD, genetic counselling is suggested. If a screening test indicates that your baby may have MSUD, a furthur blood test for amino acid levels should be performed straight away to confirm the disease.


The MSUD Family Support Group

Is a non-profit organization for those with MSUD and their families and includes health-care professionals and others interested in MSUD. Parent interest in support and information prompted the first MSUD Symposium for families and professionals in 1982.

http://www.msud-support.org/index.html