Question 1

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 2

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 3

what location is maple syrup urine disease located on the chromosomes?

Accepted Answer

There are several: The data center at the national library of medicine lists several. These include chromosome 1, 4, 6, 7 and 19 with some indication mitochondrial dna can be also be involved.

Question 4

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 5

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 6

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 7

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 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

what are the risks for maple syrup urine disease?

Accepted Answer

Brain damage: Maple syrup urine disease (msud) is caused by a 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. In the most severe form, msud can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). Some types of msud are mild however.

Question 10

how can maple syrup urine disease cause effects on the cns?

Accepted Answer

Part of disease: Maple syrup urine disease is caused by a genetic defect in metabolism of the Amino Acids Valine, leucine, and isoleucine. The urine smells like maple syrup but the defect causes CNS  symptoms from lethargy to encephalopathy, seizures and mental retardation. There is protein intolerance due to the Amino Acid disturbances.

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Doctor answers about:

What is maple syrup urine odor

A member asked:

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

A member asked:

How is maple syrup urine disease diagnosed?

A member asked:

What location is maple syrup urine disease located on the chromosomes?

A member asked:

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

A member asked:

Hows maple syrup urine disease diagnosed?

A member asked:

What are the symptoms of maple syrup urine disease?

A member asked:

Please tell me what causes maple syrup urine disease?

A member asked:

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

A member asked:

What are the risks for maple syrup urine disease?

A member asked:

How can maple syrup urine disease cause effects on the cns?

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