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What Is Maple Syrup Urine Disease?

Updated on April 6, 2017
Maple Syrup
Maple Syrup | Source

What is maple syrup urine disease? researched by awordlover

Maple syrup urine disease (MSUD) is an inherited disorder where an infant's body cannot process certain protein amino acids properly. It has the distinctive odor of maple syrup (sometimes identified as caramel) and the most common form presents soon after birth. When parents first notice the odor, they should begin seeking treatment immediately.

The variant form of this disease appears later in childhood and presents with developmental delays and other medical problems as listed below.

A child with this condition will not be a good eater because they will be plagued with incessant vomiting, lethargy, fatigue and many developmental delays. Untreated, this disease can lead to coma, seizures, even death.

Other names for Maple Syrup Urine Disease

  • BCKD deficiency

    Branched-chain alpha-keto acid dehydrogenase deficiency

  • Branched-Chain Ketoaciduria
  • Ketoacidemia
  • MSUD

Maple Syrup Urine Disease
Maple Syrup Urine Disease | Source

Interesting Fact

Maple syrup urine disease is frequently found by not limited to the Old Order Mennonite population (primarily the communities of Lancaster and Lebanon Counties in Pennsylvania) and occurs in about 1 in 385 newborns.

Who Gets Maple Syrup Urine Disease (MSUD)?

All over the world, it is estimated that 1 in 188,000 infants are born with the disease.

All humans get two copies of each gene (chromosomes), one from each parent.

  • The gene pattern is considered autosomal recessive, which means both copies have mutations. An infant with this disease will have parents who each have a copy of the mutated gene, but may not show signs or symptoms of the condition. They are carriers only.
  • Mutations in the four different genes which are responsible for making proteins in the body to break down leucine, isoleucine and valine (amino acids fund in milk, meat and eggs) cause maple syrup urine disease.
  • Any one of these four gene mutations can minimize or erase the function of the protein so that amino acids from those protein foods build up in the child's body causing toxicity to the brain and other organs and other serious medical conditions.

The end result is maple syrup urine disease producing urine of the consistency and smell of maple syrup. Some liken it to the smell of caramel as well.

Please do not copy this article.

This means don't copy this article. It also means if you DO copy, I am going to file a DMCA notice of copyright infringement against you.
This means don't copy this article. It also means if you DO copy, I am going to file a DMCA notice of copyright infringement against you. | Source
What opisthotonus looks like....when a child presents with severe hyper-extension resulting in spasticity where he is arching his body uncontrollably.
What opisthotonus looks like....when a child presents with severe hyper-extension resulting in spasticity where he is arching his body uncontrollably. | Source

awordlover suggests these Resources for Families and Patients

For diagnosis and/or management of maple syrup urine disease, these links are informative.

How Quickly Will I See This In My Child?

For The Classic Form of the Disease

  • Untreated, within 12 hours after birth, a parentwill notice a maple syrup odor in the infant's urine.
  • Within 24 hours, laboratory tests will show elevated plasma concentrations of amino acids leucine, isoleucine and valine, along with allo-isoleucine will disturb the plasma ratios in the blood.
  • Within 2 to 3 days, ketonuria along with irritability and poor eating will be present.
  • By the 4th or 5th day, a parent will notice sporadic apnea, lethargy, and opisthotonus. (see photo in sidebar)
  • By the 7th to 10th day, the child may already be in a coma and respiratory failure.

For The Intermediate Form of the Disease

  • The patients who have intermittent symptoms may benefit from being treated with the vitamin Thiamine in large dose supplement therapy.
  • However, severe metabolic intoxication can occur from such high concentrations of the supplement and throw the patient into catabolic stress caused by an imbalance of hormones and nutrients.
  • Catabolic stress causes the body's muscle and fat deposits become depleted, resulting in extreme fatigue, joint and muscle pain and sleeplessness.
  • Catabolism provides energy for our bodies from the foods we eat; too much nutrients, proteins and carbohydrates cause catabolic stress which robs our bodies of energy.

Because you can't just add Thiamine to every baby bottle to give to a baby who is not interested in feeding, physicians will choose to treat using:

  1. enteral feeding (via nasogastric tube {NG tube} or a PEG tube), or
  2. parenteral feeding (usually clear fluids with some added supplements through an IV or intravenous feeding), or
  3. TPN (total parenteral nutrition through intravenous feeding).

Early feeding treatment plan is better than late feeding treatment plan. The sooner the better. Protein in addition to Thiamine and balanced with carbohydrates will stave off the catabolic stress of stand alone thiamine treatment. Ask for nutritional support as soon as possible.

What Tests Will Be Done?

Because Maple Syrup Urine Disease is genetic, parents of children with this disease should undergo genetic testing using a blood sample which is submitted for DNA testing for tests called Bi-Directional Sanger Sequencing and Deletion/Duplication Testing via Array Comparative Genomic Hybridization

The physician is looking for "BCKDHA mutations." You can read about how the tests are performed and the pricing table here and here.

  1. Plasma amino acid test - you can read about it here
  2. Urine amino acid test - you can read about it here.
  3. Newborn screening tests - you can read about them here.

Other biochemistry tests may be performed in addition to the above tests which will depend on the type of Maple Syrup Urine Disease -

  • classic,
  • intermediate, or
  • intermittent type.

An example of specialized protein powder for a MSUD diet
An example of specialized protein powder for a MSUD diet | Source

Treatment & Disease Management

Left untreated, this disease can be a very life-threatening disease.

After a child is diagnosed, a protein-free diet is key.

  • Parents (or experienced child care provider) will be responsible for providing this diet and pay attention to close directions on how much to administer at each feeding.

Dialysis or hemodialysis may be used to lower the level of amino acids in the body.

  • Additional sugars and fats the body needs can be obtained through enteral (IV) nutrition delivered by several methods as discussed in this article..
  • When the amino acid levels get back to normal, a special diet of branched-chain amino acids (BCAC) is offered and adjusted based on the outcome of routine (weekly, monthly etc) testing for amino acid levels.

For infants, Maple Syrup Urine Disease treatment is a long term special diet of infant formula made with low levels of amino acids (leucine, isoleucine and valine). This diet is for life.

  • It is paramount to STAY on this diet to prevent neurological damage which can occur and is discussed in this article.
  • The child will be scheduled for routine blood tests (weekly, bi-weekly, then monthly).
  • The child with MSUD needs close nutritional supervision by a registered dietitian in conjunction with a physician specialist in genetic disorders.

Following the advice of these professionals will go a long way to helping parents cope with the daily ups and downs this disease.

Parents should ask for a "sick day" kit (includes medications and instructions) so that they can better manage vomiting, UTI, and gastroenteritis symptoms of their child at home, possibly due to diet which is not followed appropriately or medication schedules which somehow become compromised.

  • Management at home (with or without visiting health professionals) will cut down on hospitalizing for each incident or flare up for families who are financially stressed.
  • Stress and illness can still cause high levels of certain amino acids.
  • Death can occur during and between these episodes.
  • By sticking to the prescribed diet, MSUD children have grown into healthy adults.

Do not copy. It is stealing

DO NOT COPY | Source

Planning To Have a Child?

If anyone in your family has Maple Syrup Urine Disease (even if it is a cousin three times removed!), it would be in your best interests to have genetic testing and also follow up counselling with a genetic counsellor.

Due to this inherited disease getting attention along with several other rare diseases, many hospitals screen for Maple Syrup Urine Disease in all newborns.

Published 2012 by awordlover (Anne DiGeorge)

Updated 2/2/2014 by Rachael O'Halloran to replace pixelated Copyscape logos and to correct format issues.

© 2013 awordlover


Submit a Comment
  • awordlover profile imageAUTHOR


    5 years ago

    It is rare but new cases are being diagnosed every year. This hub might help a patient keep it in mind when tests are being done, to rule out other diseases. Thank you DDE for reading it and leaving a comment.


  • DDE profile image

    Devika Primić 

    5 years ago from Dubrovnik, Croatia

    Interesting hub I never heard of this and you accomplished an informative hub with all facts on this topic.


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