Who does maple syrup urine disease affect most?

Who does maple syrup urine disease affect most?

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.

Is maple syrup urine disease a dominant or recessive trait?

Maple syrup urine disease is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be changed to have the condition.

Why does my son’s pee smell like maple syrup?

Maple syrup urine disease is a genetic disorder where a person cannot process certain proteins. It is an inherited disorder, and a parent may notice their baby or child has sweet-smelling urine. This disorder may be fatal if left untreated. It is possible for children to develop less severe forms of the disorder.

How is maple syrup urine disease prevented?

Since MSUD is an inherited disease, there is no method for prevention. A genetic counselor can help you determine your risk for having a baby with MSUD. Genetic testing can tell you if you or your partner is a carrier of the disease.

Can adults get MSUD?

Though it is very rare for older children and adults to develop the disease, you should contact your doctor any time you detect a maple syrup smell in urine or sweat.

Why does my wee smell fishy?

A fishy smell in urine may be caused by the presence of bacteria, TMA, or an interaction between them. According to a study from 2013 , most healthy people produce chemicals that break down TMA, which stops them from smelling like fish, even when they have eaten fish recently or have a lot of bacteria in their systems.

Is maple syrup urine disease tested at birth?

Routine newborn metabolic screening for maple syrup urine disease (MSUD) has been available since 1964. This screening is performed in all 50 United States and in various parts of the world. The test is performed within 24-48 hours following birth.

Why does my husband smell like maple syrup?

Maple syrup urine disease (MSUD) is a disorder in which the body cannot break down certain parts of proteins. The urine of people with this condition can smell like maple syrup.

What is the prognosis for maple syrup urine disease?

If untreated, maple syrup urine disease can lead to seizures, coma, and death. Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth.

What are the symptoms of maple syrup disease?

Seizures

Why does my urine smell like syrup?

A rare genetic condition, maple syrup urine disease causes problems with breaking down some amino acids in the proteins you consume. The result is your pee smells like maple syrup as the chemical buildup from undigested leucine, isoleucine, and valine changes how your urine smells.

What is the history of maple syrup urine disease?

Maple syrup urine disease: Deficiency of an enzyme called BCKD causes buildup of amino acids in the body. Nerve damage results, and the urine smells like syrup. Phenylketonuria (PKU): Deficiency of the enzyme PAH results in high levels of phenylalanine in the blood. Intellectual disability results if the condition is not recognized.