why does the urine smell like maple syrup when you have msud
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Maple syrup urine disease The disease is named for the presence of sweet-smelling urine, with an odor similar to that of maple syrup, when the person goes into metabolic crisis. The smell is also present and sometimes stronger in the ear wax of an affected individual at these times.
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Wilson Disease The offspring of an individual with maple syrup urine disease are obligate heterozygotes (carriers) for a pathogenic variant. Other family members of a proband. Each sib of the proband's parents is at a 50% risk of being a carrier.
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Maple Syrup Urine Disease In 1954, Menkes et al reported a family in which 4 infants died within the first 3 months of their lives because of a neurodegenerative disorder. The urine of these infants had an odor resembling maple syrup (burned sugar). Therefore, this disorder was called maple sugar urine disease and, later, maple syrup urine disease. In the following years, Dancis et al identified the pathogenetic compounds as branched-chain amino acids and their corresponding alpha-keto acids.
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Urine odor If your urine becomes highly concentrated — a high level of waste products with little water — urine odor may have a strong ammonia smell. Many foods and medications, such as asparagus or certain vitamins, can affect the odor of urine.
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- Classic maple syrup urine disease phenotype. Maple syrup odor is evident in cerumen soon after birth and in urine by age five to seven days. In untreated neonates, ketonuria, irritability, and poor feeding occur within 48 hours of delivery.
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- Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder that, if untreated, causes mental retardation, physical disabilities and death.First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.aple Syrup Urine Disease (MSUD) is an inherited metabolic disorder that, if untreated, causes mental retardation, physical disabilities and death.
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How is Maple Syrup Urine Disease inherited? 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.rine in persons with t … his condition can smell like maple syrup.Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine.
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""" Why does my sweat occasionally smell really sweet, almost like maple syrup? """ Why does my sweat occasionally smell really sweet, almost like maple syrup? I'm a 41 year old female and on several occasions in the past six months, I've noticed that I smell really sweet, almost a maple syrupy smell. It seems to last all day, and to be coming from my skin! I googled and I don't think I have maple syrup urine disease, especially since it's not my urine that smells, but my perspiration.
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Names and Codes Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lethargy, and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. Maple syrup urine disease is caused by mutations in the BCKDHA, BCKDHB, and DBT, and DLD genes; it has an autosomal recessive pattern of inheritance.
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See a Doctor if Your Pee Looks, Smells, or Feels Like This If you answered no, well, it’s time to start. That’s because the color, odor, and consistency of your urine—not to mention the way it feels when it’s streaming out of you—can clue you in to what’s going on in your body. Here, seven warning signs to be on the lookout for every time you go: It Has a Sweet Scent. No, this has nothing to do with your dessert habits. “Sweet-smelling urine is often an important clue in the diagnosis of diabetes,” says Holly Phillips, M.D., a women’s health specialist and medical contributor for CBS2 News in New York City.
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What Causes Abnormal Urine Odor? Maple syrup urine disease (MSUD) is a metabolic disorder in which your body can’t break down certain amino acids. Read more on how to treat this rare disease. Maple syrup urine disease (MSUD) is a metabolic disorder in which your body can’t break down certain amino acids.
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Alone we are rare. Together we are strong.â¥ Donate Today Other enzymes break down the amino acids. In maple syrup urine disease (MSUD), the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly. BCKAD is a group of four enzymes that work together to break down the amino acids leucine, isoleucine, and valine for energy.
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- Maple syrup urine disease caused by mutation in the E1-alpha subunit gene is referred to as MSUD type IA; that caused by a mutation in the E1-beta subunit gene as type IB; and that caused by defect in the E2 subunit gene as type II. number sign (#) is used with this entry because maple syrup urine disease (MSUD) can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA (608348) on chromosome 19q13, BCKDHB (248611) on chromosome 6q14, and DBT (248610) on chromosome 1p21.
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Conditions Maple Syrup Urine Disease Maple syrup urine disease (MSUD) is a condition in which the body is unable to break down certain proteins. The condition is named for the sweet odor of the urine of untreated babies.orms of maple syrup urine disease (MSUD) vary widely in the severity of their signs. “Classic MSUD” is the most common form and is seen in babies. Babies with classic MSUD usually begin showing signs shortly after birth. These signs include: 1  Poor appetite.
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- Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder. With MSUD, the body cannot break down certain amino acids. Individuals who have the disease produce urine that has a distinctive maple syrup odor. Amino acids are what remain after your body digests the protein from the food you eat. Special enzymes process the amino acids so they can be used to maintain all of your body functions.
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Urine odor Normally, urine that contains a lot of water has little to no odor. If your urine becomes highly concentrated — a high level of waste products with little water — urine odor may have a strong ammonia smell. Many foods and medications, such as asparagus or certain vitamins, can affect the odor of urine.Sometimes, unusual urine odor may indicate a medical condition or disease, such as:1  Bladder infection.any foods and medications, such as asparagus or certain vitamins, can affect the odor of urine. Sometimes, unusual urine odor may indicate a medical condition or disease, such as: 1  Bladder infection.
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Maple syrup urine disease Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.aple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The most common and severe form of the disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
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- 1 Intermittent maple syrup urine disease is a milder form of the disease. 2  Individuals with this type have a greater level of enzyme activity (approximately 8 to 15% of normal) and often do not have symptoms until 12 to 24 months of age, usually as a result of an illness or surge in protein intake. Classic maple syrup urine disease is the most common type. 2  Individuals with classic maple syrup urine disease have little or no enzyme activity (usually less than 2 % of normal). 3  Infants with this type of maple syrup urine disease will show symptoms within the first several days of life.
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Why does your urine smell like ammonia? We who work in Urology sees this all the time. When urine smells of ammonia it means you have a urine infection. It's treated with antibiotics so see your doctor. Urine is high in nitrates, compounds high in nitrogen and oxygen. Ammonia is made up of nitrogen and hydrogen. (NH3) What you are smelling is the high concentration of bonded nitrogen.
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Alone we are rare. Together we are strong.â¥ Donate Today Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) the three branched-chain amino acids (BCAAs) [Leucine, Isoleucine and Valine] in the body.
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ketonuria ketoaciduria. the presence of ketone bodies in the urine; this condition is common in uncontrolled diabetes mellitus but can also occur anytime the body begins to break down fatty tissue to provide energy, as in starvation. Called also ketonuria.branched-chain ketoaciduria maple syrup urine disease.etoaciduria. the presence of ketone bodies in the urine; this condition is common in uncontrolled diabetes mellitus but can also occur anytime the body begins to break down fatty tissue to provide energy, as in starvation. Called also ketonuria. branched-chain ketoaciduria maple syrup urine disease.
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Maple Syrup Urine Disease Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body.
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- Back to Top Causes. Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
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Urine Odor A common symptom of diabetes is sweet-smelling urine. People with untreated diabetes have high blood sugar levels. High blood sugar levels cause the sweet urine odor. See your doctor as soon as possible if your urine frequently smells sweet. Untreated diabetes is dangerous and can be life threatening.
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- Hot weather or intense physical activities can contribute to dehydration, too. Concentrated urine, without any other symptoms, generally isn't harmful. Diet: For some people, eating asparagus causes urine to produce a sulfur-like smell.