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Doctor insights on: Maple Syrup Urine Disease

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Dr. Nicole Ellerine
35 doctors shared insights

Maple Syrup Urine Disease (Overview)

disease is an inherited metabolic disorder in which the body is unable to process certain protein building blocks (amino acids) . Also known as branched chain ketoaciduria. People with this disorder have urine that smells like maple syrup as a result. The smell is from the buildup of certain amino acids and toxic byproducts in the urine and sweat.


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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
35 doctors shared insights

Maple Syrup Urine Disease (Overview)

disease is an inherited metabolic disorder in which the body is unable to process certain protein building blocks (amino acids) . Also known as branched chain ketoaciduria. People with this disorder have urine that smells like maple syrup as a result. The smell is from the buildup of certain amino acids and toxic byproducts in the urine and sweat.


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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

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Please tell me what causes maple syrup urine disease?

Please tell me what causes maple syrup urine disease?

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. ...Read more

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Living with Coronary Artery Disease (Checklist)

Take meds as prescribed
Once
Exercise daily as recommended by your doctor or trainer
daily
Limit meat, dairy, and fats as much as possible
Once
Eat whole grains only - not white bread
Once
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What is maple syrup urine disease and how is it treated?

What is maple syrup urine disease and how is it treated?

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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What is the treatment for maple syrup urine disease?

What is the treatment for maple syrup urine disease?

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. ...Read more

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Treating Pelvic Inflammatory Disease (Checklist)

Ask for STD testing
Once
Have your partner get STD testing
Once
Take all of your medication exactly as prescribed
Once
Use condoms when having intercourse to prevent STD transmission
Once
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Please tell me what genetic disorder is maple syrup urine disease?

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

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. ...Read more

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What puts a person at risk for maple syrup urine disease?

What puts a person at risk for maple syrup urine disease?

Origin/genes: This is a rare defect of metabolism named for the sweet maple syrup smell of patients urine.It occurs in about 1/150,000 births worldwide with a higher frequency in the older Mennonite community.New cases appear when two asymptomatic "carrier" parents give their one defective gene to create the gene pair in the affected infant. Most parents of a new case never knew they were at risk. ...Read more

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Managing Peripheral Vascular Disease (Checklist)

Try to continue walking
Once
Make sure risk factors are addressed (blood pressure, cholesterol)
Once
Inspect your feet daily -- call your MD with any wounds
Daily
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Can you use isomil milk formula in infants with msud( maple syrup urine disease)?

Can you use isomil milk formula in infants with msud( maple syrup urine disease)?

Probably not: This disease is because of a defect in metabolism of leucine, isoleucine and valine, all present in protein. I believe that mead johnosn may be making a diet for this disease but it is a long time since i had the care of a msud patient----- a very difficult disease to treat and only diet can prevent the mental retardation that is otherwise inevitable. ...Read more

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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

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