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Doctor insights on: Maple Syrup Urine Disease

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Dr. Nicole Ellerine
34 doctors shared insights

Maple Syrup Urine Disease (Overview)

Maple syrup urine disease is a disease passed down in families due to a lack of an enzyme responsible for digesting certain kinds of amino acids. These amino acids build up in the body, causing damage to various organ systems.


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Hows maple syrup urine disease diagnosed?

Hows maple syrup urine disease diagnosed?

See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate. ...Read more

Dr. Nicole Ellerine
34 doctors shared insights

Maple Syrup Urine Disease (Overview)

Maple syrup urine disease is a disease passed down in families due to a lack of an enzyme responsible for digesting certain kinds of amino acids. These amino acids build up in the body, causing damage to various organ systems.


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How does the maple syrup urine disease affect your body?

How does the maple syrup urine disease affect your body?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. http://msud-support.org/. ...Read more

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Dealing with Blood in Urine (Checklist)

Rule out infection as a cause with a urinalysis or culture
once
Ask your doctor to review your medications to identify cause
once
Rule out kidney stones with your doctor
once
If male, schedule a prostate exam
once
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What are the symptoms of maple syrup urine disease?

What are the symptoms of maple syrup urine disease?

Mental retardation: This disease occurs statistically in 1 in 10000 births. Urine smells exactly the same as the vermont maple syrup. Being recessive, both parents have to give the gene to theiroffspring. That is why it is more risky to marry a cousin. ...Read more

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I just had a maple syrup urine disease diagnosis, what can I expect?

I just had a maple syrup urine disease diagnosis, what can I expect?

Not sure: Msud is typically diagnosed shortly after birth or before age 1. Frankly I am skeptical of a diagnosis in an adult and suggest you return to the doctor that made this diagnosis and ask for a referral to a metabolic geneticist - to confirm the diagnosis and get proper genetic counseling. ...Read more

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Living with Addison's Disease (Checklist)

Wear a medic alert
Once
Take additional hydrocortisone/prednisone for fever or injury
Once
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What should I expect after being diagnosed with maple syrup urine disease?

What should I expect after being diagnosed with maple syrup urine disease?

Lots of info: Please see this website for info: www.Msud-support.Org it has lots of great information for families. ...Read more

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What test for maple syrup urine disease?

What test for maple syrup urine disease?

See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate. ...Read more

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What natural test booster should I take if I have maple syrup urine disease?

What natural test booster should I take if I have maple syrup urine disease?

Good Info Here: Please check out this website. It has really good information and should be resourceful for you. http://msud-support.org/ i don't know what you mean by natural booster, however. ...Read more

Urine (Definition)

Urine is the product of the kidneys, which is produced to eliminate the waste products of metabolism, manage body fluid balance, &maintain acid-base balance. The blood is first filtered by the kidneys, and the composition of the resulting fluid is then altered depending on the body's needs. It is composed of mostly water, and breakdown products from blood cells impart ...Read more