Elmo, big bird, and potato man.

Well over 100 inborn errors of metabolism can now be detected by newborn screening, with more certainty. Concomitantly with the onset of the symptoms, the patient affected with MSUD emits an intense (sweet, malty, caramel-like) maple-syrup-like odor. In general, neonatal (classic) MSUD does not display pronounced abnormalities on routine laboratory tests.

Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. So, yes.

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.

Maple syrup urine disease (MSUD) is inherited through specific genetic mutations that impact the body's ability to break down certain amino acids. It is passed down in an autosomal recessive pattern, meaning both parents must be carriers of the gene mutation for a child to inherit the disease. Early detection through newborn screening and dietary management are crucial for individuals with MSUD.

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.

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.

Yes, but the question is should they. MSUD is a recessive genetic condition and a child must inherit two copies of the nonworking gene, one from each parent. The parents often do not show signs and symptoms. The genes that are non-working cannot break down some amino acids and produce maple syrup urine disease. These are often called the branched chain amino acids. High levels of these unbroken amino acids are toxic. And these children must receive treatment as they are at risk for brain damage or death. About one out of every 380 babies from the Old Order Mennonite population is affected. So it is found in populations that are small, carry the recessive gene and intermarry.

Urine smelling like pickles could be due to a condition called Maple Syrup Urine Disease (MSUD), which is a rare genetic disorder that affects the way the body metabolizes certain amino acids. This can lead to a distinctive odor resembling maple syrup or, in some cases, pickles. It is important to consult a healthcare professional for proper diagnosis and treatment if you notice unusual odors in your urine.

There are various causes of sweet smell in the urine. Most are transient and due to metabolizing various foods. Sometimes strong odor is due to highly concentrated urine when one hasn't consumed enough water, easily fixed. Another cause is sweet smell due to uncontrolled diabetes melitus, which can be determined through urinalysis evaluated by a physician.

There is a rare metabolic disease called Mapple Syrup Urine Disease , as the smell is like slightly burnt sugar - or for people who have actually smelt mapple syrup, that is apparently what the urine smell is similar to. The incidence of this illness is around one in 200.000 births, with the exception of a small intermarrying community of Northern European descent in the USA where the incidence is much higher. This neurological condition effects infants and children and would not present in adults.

MSUD, as it is known, is a condition where the body can't deal with substances called branched aminoacids. One of these, called leucine is toxic, in particular to the brain. There are various types of the disease, symptoms range from brain disfunction and death in the newborn period to very mild indeed. Many children will have mental retardation, even if their MSUD is discovered early and the metabolic doctors that care for them put them on the special protective diet at a very young age.

Some very fortunate children are known to have normal intelligence, this requires very good metabolic control throughout their lifetime.

Other causes of sweet smell in the urine are very rare indeed. One should have a talk with a doctor who specialises in metabolic medicine if one is concerned that urine smells very different to the usual. The tests to find out what is wrong and the methods to fix the problem are very complex.