Gene Conklin

Biology
Mr. Gain
5/16/14
Maple syrup urine disease
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.
Beginning in early infancy, this condition is 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. The most common type
is the classic kind which affects right after birth.
Maple syrup urine disease affects an estimated 1 in 185,000 infants
worldwide. The disorder occurs much more frequently in the Old Order Mennonite
population, with an estimated incidence of about 1 in 380 newborns. Mutations in
the BCKDHA, BCKDHB, DBT, and DLD genes can cause maple syrup urine
disease.
This condition is inherited in an autosomal recessive pattern, which means
both copies of the gene in each cell have mutations. The parents of an individual
with an autosomal recessive condition each carry one copy of the mutated gene,
but they typically do not show signs and symptoms of the condition.
Genetic counseling is suggested for people who want to have children and
who have a family history of maple syrup urine disease. Many states now screen
all newborns with blood tests for MSUD. If a screening test shows that your baby
may have MSUD, a follow-up blood test for amino acid levels should be done right
away to confirm the disease.
When the condition is diagnosed, and during episodes, treatment involves
eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein
(IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of
abnormal substances. Long term treatment requires a special diet. The diet includes
a man-made infant formula with low levels of the amino acids Lucien, isoleucine,
and saline. Persons with this condition must remain on this diet permanently. It is
very important to always follow this diet to prevent nervous system (neurological)
damage. This requires frequent blood tests and close supervision by a registered
dietitian and physician, as well as cooperation by the parents.
Gene Conklin
Biology
Mr. Gain
5/16/14
Maple syrup urine disease
Work cited

http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm

http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease