Maple Syrup Urine Disease

 

What is MSUD?

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Maple syrup urine disease is often classified by its pattern of signs and symptoms.

• Classic Severe MSUD
• Intermediate MSUD
• Intermittent MSUD
• Thiamine-responsive MSUD
• E3-Deficient MSUD with Lactic Acidosis

The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other health problems if not treated.

 

Genetics and Statistics

MSUD is effectively caused by the mutation of three genes, that aid the body in breaking down the amino acids found in consumables with protein present. A mutation of just one of these three genes prevent the liver from the normal breakdown of the amino acids Leucine, Isleucine and Valine. This results in a build up to dangerously toxic levels. The brain and other organs become affected and it can cause further serious health issues including brain damage and death if untreated.

MSUD affects approximately 1 in 185,000 infants world wide, but more common in the Old Order Mennonite population with 1 in 380 newborns affected.

MSUD is diagnoised initially by the Newborn screening via a blood sample take 48hrs after birth and analyzed for high leucine levels. It is essential for those with family history to have this screening urgently done, so proper treatment for management can begin early. The child has a 1:4 chance of being affected or not being affected, and a 1:2 chance of being a carrier.
Parents of newborns affected by this disease will either be affected by the disease themselves or just a carrier. The newborn will recieve a one copy of the mutated gene from both parents for it to be affected by MSUD. However it is known in rarer cases for a child to receive MSUD from a single parent.

 

 

 

Treatment and Lifestyle

Infants with the disease must drink a special man-made formula that does not contain the amino acids leucine, isoleucine, and valine. As the individual grows, monitoring of blood samples allow the metabolic team to analyze the need to increase or decrease protein consumtion. A person with MSUD msut follow a strict diet that must be carefully monitored, avoiding high-protein foods such as meat, eggs, and nuts. The diet centers around a synthetic formula or “medical food” which provides nutrients and all the amino acids except leucine, isoleucine and valine.

If the levels of Lucience become elevated (from over-consumption of protein or illness), patients begin to show unwell symptoms within hours and if untreated, their condition deteriorates rapidly. First sign is the sweet smelling urine, followed by other symptoms such as loss of appetite, uncoordinated and loss of balance, physical sickness and migraine-like headaches and hallucination. If “sick day” formula is not given, the patients’ condition continues to deteriorate and they can have seizures, fall into a coma state and without hospital intervention at this stage, death is a high probability.
On arrival at emergency, the hospital will take blood samples and begin a sick care regime. In extreme cases, they may place the patient in a coma, and begin dialysis to filter the toxins from the bloodstream, as well as medicinal intervention to reduce swelling and aid recovery.
Zero levels of protein should be given at this stage. Once blood tests show that the levels of luceine have dropped low, back into the acceptable range, the metabolic team will slowly introduce small amounts of protein and closely monitor blood samples to find a happy medium. Once the team is satisfied that the levels are stable the patient can be discharged. It is essential the the patient is receiving the highest amount of protein that they can tolerate, as if there is too little given, the body will make self protein with is counter-productive and this also elevates the luceine levels.

MSUD for LIFE!

Living with a life-long, rare disease can be challenging. Read below several short stories shared with permission from families dealing with MSUD!

 

 

 

RESOURCES:

Living With MSUD – Diary.

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

http://www.patient.co.uk/doctor/Maple-Syrup-Urine-Disease.htm

https://www.facebook.com/groups/2220742408/

http://en.wikipedia.org/wiki/Maple_syrup_urine_disease

 

FOOTNOTE: The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.