0
It is an autosomal recessive condition.
MSUD is an autosomal-recessive disorder, with an incidence of 1 in 120 000 to 1 in 500 000. It is highly prevalent in the inbred Mennonite population in Pennsylvania, occurring in approximately 1 in 176 newborns. In countries where consanguineous marriages are common the frequency is also higher (about 1 in 50 000 in Turkey). About 75% of those affected suffer from the severe classic form, and the remainder suffer from the milder intermediate or intermittent variants. Over 150 different causal mutations scattered among the three E1α, E1β, and E2 genes give rise to either classic or intermediate clinical phenotypes.
MSUD occurs when a persons metabolism cannot break down certain proteins and amino acids. These chemicals, especially, are leucine, isoleucine, and valine. In a result of this, when a person with MSUD urinates, it can smell like maple syrup.
MSUD is an autosomal-recessive disorder, with an incidence of 1 in 120 000 to 1 in 500 000. It is highly prevalent in the inbred Mennonite population in Pennsylvania, occurring in approximately 1 in 176 newborns. In countries where consanguineous marriages are common the frequency is also higher (about 1 in 50 000 in Turkey). About 75% of those affected suffer from the severe classic form, and the remainder suffer from the milder intermediate or intermittent variants. Over 150 different causal mutations scattered among the three E1α, E1β, and E2 genes give rise to either classic or intermediate clinical phenotypes.
Add your answer:
Earn +20 pts
Is maple urine disease dominant?
yes
Does Megan Fox have maple syrup urine disease?
no
Can you become retarded from eating too much maple syrup?
There is a disease called Maple Syrup Urine Disease that is associated with mental retardation, but this has nothing to do with eating maple syrup. It is caused by a missing enzyme due to a genetic defect resulting in substances in the urine that make it smell like maple syrup. This is a disease people are born with. It is not acquired and has nothing to do with diet.
What celebrities have maple syrup urine disease?
Megan Fox and Pamela Anderson
Who is affected by maple syrup urine disease?
Both boys and girls get it, and baby
How long is a persons life span with maple syrup urine disease?
none
When was Maple Syrup Urine Disorder discovered?
Maple Syrup Urine Disease (MSUD) was discovered by John Menkes in 1954. This is a disorder whereby there is a disruption in the metabolism of branched-chained amino acids.
What famous people have Maple Syrup urine disease?
So far, no famous person does.
Is maple syrup urine disease cause by a mutation?
Yes, there are several different mutations that can cause it.
What is the cause of maple syrup disease?
Maple syrup urine disease (MSUD) is ametabolismdisorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down theamino acidsleucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
Does maple syrup urine disease only occur in infants?
no it can also occur in dogs and cats and adultd
Is the maple syrup disease sex-linked?
Yes, maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder, not a sex-linked disorder. It is caused by mutations in genes on autosomal chromosomes, which both males and females can inherit equally.
