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/.

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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...

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 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...

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...

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...

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...

What are the risks for maple syrup urine disease?

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. Read more...

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...