Is gene therapy for maple syrup urine disease?

Not Yet. Msud is a very rare genetic d/o where one is unable to break down the Amino Acids (aa): leucine, isoleucine, & valine. The degree to which an individual might be affected varies. In the us it is diagnosed with neonatal screening which takes place when the baby is around 24 hrs old. Treatment is with dietary avoidance of these aa to spare brain damage and possible death.

Related Questions

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...

My daughter is diagnosed with maple syrup urine disease. Could it be genetic?

Yes. Msud is transmitted in autosomal recessive fashion. Read more...
It is genetic. This disorder results when asymptomatic carrier parents both pass a defective MSUD gene to the baby. Parents have no symptoms because 1 good gene compensates. But this means any pregnancy could pass both bad genes/no bad genes or the carrier state.There are subtypes of the disease based on the mutation. Find a metabolic specialist & geneticist for more info. Children's in Dallas has them. 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...

Which particular type of person can be affected by maple syrup urine disease?

Maple syrup urine. If you have access to a computer or can go to a nearby library please look up ghr.nlm.nih.gov/condition/maple-syrup=urine-disease This is not the "type of person" but is more often family related. Read more...

Mortality rate with maple syrup urine disease?

Varies. This autosomal recessive genetic disorder of branched chain ketoaciduria requires testing and strict dietary adherence for management. If this is followed, individuals can lead normal lives with excellent health, exempting them from the neurologic complications which are responsible for morbidity and mortality. Read more...

The mortality rate with maple syrup urine disease?

Depends. The earlier the disease is detected and the patient is placed on an appropriate diet, the better the long term prognosis is. Read more...

Questions on maple syrup urine disease? Do the amish mainly get it?

More common. For a rare disease, msud is much more prevalent among the old order mennonite population in lancaster county, pa. Incidence rates are estimated around 1:760 births as opposed to a worldwide incidence of 1:290, 000. Read more...

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

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. Read more...