Question 1

what's maple syrup urine disease?

Accepted Answer

A genetic disease: Infants with msud lack an enzyme to break down Amino Acids (proteins) in their diet, so the acids accumulate in their blood and tissues and become toxic, causing sweet-smelling urine, ear wax, etc-hence the name-but also brain damage. Each parent contributes one gene for this, so the parents are usually carriers.  It is very rare (1:180, 000 births) and screened for in the blood test after birth.

Question 2

hows maple syrup urine disease diagnosed?

Accepted Answer

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.

Question 3

can you explain maple syrup urine disease?

Accepted Answer

Genetic disorder: Maple syrup urine disease is an inherited genetic disorder of protein breakdown.  It is now often diagnosed by newborn screen. A good general information site can be found at http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001411/.

Question 4

how is maple syrup urine disease diagnosed?

Accepted Answer

Newborn screen: In the US, MSUD is part of the newborn screen all babies get before leaving the hospital, but it's usually symptomatic in the first weeks after birth when amino acids start to accumulate in the blood.  Symptoms are poor feeding, irritability, seizures, and smelly urine. Definitive test is quantitative plasma amino acids, and is usually done on day of life 2 if there is a family history of MSUD.

Question 5

what are the symptoms of maple syrup urine disease?

Accepted Answer

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.

Question 6

please tell me what causes 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 7

who was the first ti discover maple syrup urine disease?

Accepted Answer

Maple  Syrup Urine: disease was discovered by a pediatrician named Dr. John Menkes in 1954 .

Question 8

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

Accepted Answer

MSUD: Msud is a genetic, inherited disorder that involves an abnormality in the way your body processes amino acids.  It is inherited in an autosomal recessive pattern, meaning that you need two copies of the defective gene, one from each parent, to exhibit signs of the disease.  In other words, to be at ris for msud, both parents need to be carriers of the gene, or suffer from msud themselves.

Question 9

can you tell me the risk factors for maple syrup urine disease?

Accepted Answer

Your genes: Msud is a genetic disorder.  It occurs about 1:300000 although in some populations like mennonites the risk is as high as 1:300.  There are multiple different genes associated with this disorder but all are involved in the metabolism of branched chain amino acids.  The risk of having msud depends on the carrier status of your parents.  Similarly, the risk to offspring depends on your carrier statu.

Question 10

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

Accepted Answer

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.

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