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.

Related Questions

What's maple syrup urine disease?

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. Read more...

What is 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/. Read more...

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...

Can you explain maple syrup urine disease?

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/. Read more...

How is maple syrup urine disease diagnosed?

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. Read more...

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...

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...

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...