General Information for Families
Maple Syrup Urine Disease (MSUD) is a disorder abnormally affecting the metabolism of amino acids. This disease is treated and managed very similar to the care of patients with PKU. The disorder affects the way the body metabolizes certain components of protein. These components are the three branch-chain amino-acids leucine, isoleucine, and valine. These amino acids accumulate in the blood causing a toxic effect that interferes with brain function.
Inheritance and Frequency
The gene defect for MSUD is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.
Signs & Symptoms
This disease presents very dramatic signs in the newborn period such as poor feeding, lethargy, convulsions, and even death, occurring within the first few days of life.
Long Term Effects
Dietary restrictions must be maintained through the lifetime of an affected individual.
Treatment
Treatment requires dietary restriction of branched-chain amino acids, a special
medical formula (drink similar to milk) and intensive dietary monitoring.
Source: savebabies.org
What are amino acid disorders?
Amino acid disorders (AA disorders) cause the body to have problems breaking down
certain proteins. The body breaks down, or metabolizes, food. The food is changed
into nutrients they body can use, and the body gets rid of the chemicals it does
not need. Enzymes(chemicals that do jobs in the body) usually help break down food.
A person who has an AA disorder is missing a specific enzyme, or the enzyme is not working as well as it should. This prevents the body from breaking down protein in food, and toxic chemicals build up in the body. The build up of toxic chemicals
can cause serious damage to organs. Each enzyme deficiency causes a different AA
disorder. A special diet and medication can prevent most problems.
What causes AA disorders?
AA disorders are inherited when both parents pass an abnormal AA gene to their child.
This means both parents are carriers of a particular AA disorder. Carriers do not experience any health problems related to the AA disorder. When two carriers of a particular AA disorder have children together, there is a 1 in 4 (25%) chance for each baby to have the AA disorder.
How are AA disorders detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has an AA disorder.
What problems can AA disorders cause?
An AA disorder is different for each child. Untreated AA disorders can cause vomiting,
eye problems, liver problems, mental retardation, and possibly coma or death. It is extremely important to follow the doctor’s instructions about caring for a child with an AA disorder.
What is the treatment for AA disorders?
AA disorders can be treated. People with AA disorders should not eat certain proteins
that the body has trouble breaking down. Medication may help the body get rid of
harmful toxins. The treatment is life-long. For children who have an AA disorder:
- The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about the special diet.
- Families are taught to read labels carefully when shopping for food.
- Treatment for an AA disorder is lifelong, and a child with an AA disorder should see a doctor regularly.
Source: Minnesota Newborn Screening Program
National and State Specific Family Resources
View National and State Specific Family Resources
Maple Syrup Urine Disease Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| Total Specimens: | 182799 | 107983 | 151193 | 133680 | 74887 | 73857 | 0 | 724399 |
| 2005 | 1 | 0 | 0 | 0 | 2 | 0 | 0 | 3 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| Total Specimens: | 183727 | 107852 | 151296 | 127572 | 68895 | 71791 | 53583 | 764716 |
| 2004 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| Total Specimens: | 185033 | 109133 | 152211 | 128970 | 73362 | 71095 | 53381 | 773185 |
| 2003 | 2 | 0 | 0 | 1 | 0 | 0 | 0 | 3 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| Total Specimens: | 184033 | 109360 | 152561 | 127978 | 71634 | 67839 | 52775 | 766180 |
| 2002 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
