Dominance
Maple Syrup Urine Disease is a recessive X-linked trait. This means that the mother must have both recessive alleles and the father must also have a recessive allele in order for the offspring to get an infected girl offspring. But in order to have an infected boy offspring, the mother could be a carrier or infected. This disease is not incomplete dominant because you either have the disorder or you don't, there is no in between. It is cause by a mutation in 1 of 4 genes that consist of a protein complex that is responsible for breaking down amino acids. This disorder is heterozygous because in order to get the disorder both of your parents have to be carriers
- Avoiding food
- Coma
- Feeding difficulties
- Lack of energy and enthusiasm
- Seizures
- Urine that smells like maple syrup
- Vomiting
This disease is progressive because it can get worse if left untreated. The worsened symptoms are seizures, going into a coma, and dying within the first few months of life. Symptoms typically
develop as soon as soon as 4 to 6 days after birth. Its is estimated that 1 out of 18500 infants world-wide are born with this disorder. After birth, doctors do screening to check if you have the disorder.
develop as soon as soon as 4 to 6 days after birth. Its is estimated that 1 out of 18500 infants world-wide are born with this disorder. After birth, doctors do screening to check if you have the disorder.
Treatments
Possible treatments are protein free diets and fluids sugars and fats given by an IV tube. There is no cure for MSUD; a person with this disorder should remain on a diet for the remainder of their life. The person with the disorder will also have to go to daily checkups with their doctor.
Having this disorder can change your life you will not be able to eat a certain types of food because of the amino acid build up in your body.
Prognosis
Life threatening symptoms if left untreated:
- Comma
- Death
- Neurological damage
Illness can trigger high levels of amino acids, and can damage the body. With the proper diet the children can live till adulthood. The life span of MSUD has increased during the years because people have found new special diets and new machines for that person with the disorder can live more.
Bibliography
2. http://www.diet.com/g/maple-syrup-urine-disease
3. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/
4. http://health.nytimes.com/health/guides/disease/maple-syrup-urine-disease/overview.html
