Maple Syrup Urine Disease
MSUD affects the way the body breaks down three amino acids: leucine, isoleucine, and valine. A mutation that results in a deficiency for one of the six proteins that breaks down the three amino acids: leucine, isoleucine, and valine. MSUD is a very rare disease. Most babies that are born with MSUD that are left untreated live only for two-three months. Death is usually caused by rapid degeneration of the brain. MSUD also affects the: liver, kidneys, and the eyes.

MSUD is autosomal recessive. Autosomal recessive means that both parents must be carriers or have the disease in order for there offspring’s to have MSUD. MSUD is inherited from chromosome 19. If a couple who are carriers were to have children. One child would have: 25% chance of having MSUD, 50% chance of being a carrier with no symptoms, and 25% chance of being normal. The disorder affects the BCKHDA gene (the gene that affects the break down of leucine, isoleucine, and valine). Each child inherits one copy of the gene from there mom and one copy from there dad.

MSUD has several less common forms each varying in severity and characteristics. The most common MSUD symptoms are loss of appetites fussiness, and sweet smelling urine (thus the name Maple Syrup Urine Disease). Babies look normal at birth three-four days the symptoms appear.

Daily Life:

All babies are screened and tested within 24 hours or first five days of birth. MSUD is diagnosed by the characteristics of the odor of the urine. They confirm MSUD by the levels of amino and keto acid in blood and urine. Doctors mainly pull blood from the babies heals. At Emory Genetics Lab they do two tests for MSUD detection. One biochemical testing, this test is to see if you have MSUD the test cost are around $150 to $1,475. The second is molecular testing, this test is for that if someone in the family had MSUD and want to see if they are carrier or have MSUD the test cost are around $1,500 to $2,731.

There is no cure for MSUD. But MSUD patient are put on a strict diet. The diet consists of low-protein food to keep amino acid levels down. Since there body doesn’t get protein they tire easily. A drive from work to home could cause patient to take naps. Doctors recommend that parents & family live near hospital that are able to treat MSUD. Some doctors say to go to hospital weekly to check amino acid levels

For some forms of MSUD a simple liver transplant is needed to get rid of MSUD. The first liver transplant to cure MSUD was done in 2004. Marlon Falconer was one of the many who have had a liver transplant to cure MSUD. The MSUD Research has come out with the A.A.A. Amino Acid Analyzer. With AAA severe MSUD patient have a higher chance of surviving. AAA is faster than a blood test. It is like a glucose meter.

Additional Facts:
MSUD is extremely rare only 1 out of 180,000 babies, but certain populations of the Mennonites, in Pennsylvania, are more common. In there population 1 out of 176 babies have MSUD.
There are several different types:
  • Type 3
  • Type 2
  • Type 1
  • Type 1A
  • Type 1B
The most severe type of MSUD is type 1B. Patient with type 1B have a higher chance of surviving because type 1B shows up easier on test results so it can be treated earlier.

Punnett Square:

Pedigree Chart: