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maple syrup urine disease.
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Transcript
maple syrup urine disease.
team members:
Ashley
charmine
Ciclaly
symptoms of having maple syrup urine disease.
- Avoiding food
- Coma
- Feeding difficulties
- Lethargy
- Seizures
- Urine that smells like maple syrup
- Vomiting
Cause of the disorder.
how bout dat extra credit MRS. LLOYD
- Its caused by gene defect.
- Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
- Its genetic tendency.
what is maple syrup urine disease?
how the disease is inherited by.
Something new that we learned was:
- inherited in an autosomal recessive pattern.
- Both copies gene have a cell that is mutated.
- 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.
- its not sex-linked.
- its recessive.
- that a persons urine can smell like maple syrup.
- We learned what maple syrup urine disease symptoms it has.
- We also learned about what the causes it might cause if not treated quickly.
- 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
- it affects the urine.
how is this disease treated.
how many and what type of people are likely to have the disease?
- involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein. Peritoneal dialysis or hemodialysis can be used to reduce the level of amino acids.
- you must do this diet to prevent from having nervous system damage.
- Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide.
- 1 in 380 newborns that have the disease.
how the disease is diagnosed.
- By advanced screening
- By blood sample
- also urine analysis due to advance screening may fail
- enzymatic diagnosis could be seen through white blood cells
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