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Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. So, yes.
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Do any famous people have MSUD?
Elmo, big bird, and potato man.
How harmfal is maple syrup urine?
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.
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.
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.
Is Maple syrup urine disease dominant?
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.
Can people with MSUD have children?
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.
Maple syrup urine disease?
DefinitionMaple syrup urine disease (MSUD) is a metabolism disorder 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.Alternative NamesMSUDCauses, incidence, and risk factorsMaple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branched-chain amino acidsleucine, 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).MSUD also occurs in an intermittent form and a mild form. Even in the mildest form, repeated periods of physical stress can cause mental retardationand high levels of leucine.SymptomsAvoiding foodComaFeeding difficultiesLethargySeizuresUrine that smells like maple syrupVomitingSigns and testsPlasma amino acid testUrine amino acid testThere will be signs of ketosis and excess acid in blood (acidosis).TreatmentWhen the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of amino acids.A special diet free of branched-chain amino acids is started when amino acid levels are normal. The health care provider will follow these levels closely, and will adjust the diet based on amino acid levels.Long term treatment requires a special diet. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.Expectations (prognosis)This disease can be life threatening if untreated.Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into healthy adulthood.ComplicationsComaDeathNeurological damageCalling your health care providerCall your health care provider if you have a family history of MSUD and are planning to start a family. Also call immediately if you have a newborn who has symptoms of maple syrup urine disease.PreventionGenetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Many states now screen all newborns with blood tests for MSUD.If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease.ReferencesWendel U, Ogier de Baulny H. Branched-chain organic acidurias/acidemias. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer; 2006:chap 19.
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