Question 1

what is the best treatment for maple syrup urine odor?

Accepted Answer

Work up: Have you been diagnosed with maple syrup urine disease? This is a disease caused by an inability to metabolize certain amino acids. Urine & blood Amino Acid analysis makes diagnosis of this genetic disorder. If you have it, avoid certain foods to prevent brain damage.  Avoiding leucine containing foods is the usual treatment. See <http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001411/ >.

Question 2

is gene therapy for maple syrup urine disease?

Accepted Answer

Not Yet: Msud is a very rare genetic d/o where one is unable to break down the Amino Acids (aa): leucine, isoleucine, & valine. The degree to which an individual might be affected varies. In the us it is diagnosed with neonatal screening which takes place when the baby is around 24 hrs old. Treatment is with dietary avoidance of these aa to spare brain damage and possible death.

Question 3

which chromosome defect leads to maple syrup urine disease and can stem cell therapy help?

Accepted Answer

See below: Most commonly the defect is on chromosome 19, although other mutations on other chromosomes occur less frequently.  Current therapy is dietary avoidance of the Amino Acids these patients cannot break down.

Question 4

besides maple syrup urine disease, are there some other causes of urine that smells sweet like syrup?

Accepted Answer

Possibly diabetes: To my knowledge, uncontrolled diabetes might also cause this, but i would expect the person to also have weight loss, and frequent urination besides just a sweet smell to the urine.

Question 5

my daughter has maple syrup urine disease. what treatment is effective ?

Accepted Answer

Transplant: There are several children who had had successful liver transplantation for this genetic disease.

Question 6

what is the treatment for maple syrup urine disease?

Accepted Answer

See below: Dietary therapy with restriction of branched chain amino acids, with special formulas.Thiamine, and sodium chloride supplementation. Decompensation is treated with intravenous fluids. Liver transplantation is also considered.

Question 7

classic maple syrup urine disease affects the way you learn new skills?

Accepted Answer

Yes: Early intervention with treatment in the first five days after birth is associated with normal IQ, while those not treated until symptomatic have a higher incidence of learning and behavioral disorders.

Question 8

please tell me what genetic disorder is maple syrup urine disease?

Accepted Answer

Recessive defect: Msud is an inherited defect in in metabolism.This results when two asymptomatic carrier parents give their fetus a defective gene. After birth, the baby will lack an enzyme needed to break down branch chained protein structures.These build up in the blood ; spill into the urine producing the characteristic odor.The parents are unaffected because a single copy of the normal gene do the  work.

Question 9

which particular type of person can be affected by maple syrup urine disease?

Accepted Answer

Genetic: This disease is genetic, passed down from affected parents. It has a higher prevalence in persons of amish, mennonite, and jewish descent.

Question 10

mortality rate  with maple syrup urine disease?

Accepted Answer

Varies: This autosomal recessive genetic disorder of branched chain ketoaciduria requires testing and strict dietary adherence for management.  If this is followed, individuals can lead normal lives with excellent health, exempting them from the neurologic complications which are responsible for morbidity and mortality.

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What is the best treatment for Unusual odors maple syrup urine odor

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What is the best treatment for maple syrup urine odor?

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Is gene therapy for maple syrup urine disease?

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Which chromosome defect leads to maple syrup urine disease and can stem cell therapy help?

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Besides maple syrup urine disease, are there some other causes of urine that smells sweet like syrup?

A member asked:

My daughter has maple syrup urine disease. what treatment is effective ?

A member asked:

What is the treatment for maple syrup urine disease?

A member asked:

Classic maple syrup urine disease affects the way you learn new skills?

A member asked:

Please tell me what genetic disorder is maple syrup urine disease?

A member asked:

Which particular type of person can be affected by maple syrup urine disease?

A member asked:

Mortality rate with maple syrup urine disease?

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