Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder, in which the defect in the Branched Chain Ketoacid Dehydrogenase (BCKD) enzyme causes irregular amino acid metabolism. It is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase complex (BCKDC), the second enzyme of the metabolic pathway of the three branched-chain amino acids, leucine, isoleucine, and valine. She writes: “About three weeks ago my bedroom closet and bathroom started smelling like maple syrup. This leads to accumulation of protein in the body. The Mystery of the Maple Syrup Smell. It is easy to become overwhelmed and unnecessarily concerned when using the internet for answers, and you seem to have realized that it would be very unusual for an otherwise healthy person to have undiagnosed maple syrup urine disease at the age of 41. With dehydration, the urine is more concentrated and may have a stronger ammonia scent than normal. If … Failure to move and be active (lethargy). Because these amino acids do not get broken down completely, high levels accumulate in the blood, urine and sweat. Learn why urine may smell sweet, treatments, and when to see a doctor. In maple syrup urine disease, when the enzyme is missing, protein cannot be fully broken down for use by the body. Maple syrup urine disease (MSUD, MIM #248600) also known as branched-chain ketoaciduria, is a disorder affecting the aliphatic or branched-chain amino acids. The reason for this is unknown. Want to know more about maple syrup urine disease and … Signs and symptoms depend on the type of maple syrup urine disease. The name of the disease came about as high levels of these amino acids in the urine produce a smell similar to that of maple syrup. Scarlett Lindeman June 14, 2010. These three amino acids all share a similar branched shape. Maple syrup urine disease (MSUD) is a metabolic disorder that is genetically inherited 2. BCKAD is a group of four enzymes that work together to break down the amino acids leucine, isoleucine, and valine for energy. An inherited condition, maple syrup urine disease, so named because it causes urine to smell like sweet maple syrup, results from the body's inability to digest certain amino acids. Infants with this disease seem healthy at birth but quickly deteriorate, often with severe brain damage, which may be permanent. The reason for this is unknown. maple syrup urine disease in adults. You probably don’t have maple syrup urine disease because it’s a rare inherited disorder that affects an estimated 1 in 185,000 infants worldwide, according to the National Institutes of Health. 45 years experience Pediatrics. Dehydration makes urine stronger, which can result in an increase in odor. Do you mysteriously smell maple syrup everywhere? Maple syrup urine disease (rare genetic condition that becomes apparent during infancy) Metabolic disorder (a problem with the way your body converts the foods you eat into energy) Type 2 diabetes (uncontrolled) Urinary tract infection (UTI) Causes shown here are commonly associated with this symptom. In fact, some mini pig owners claim that their pet gives out a sweet smell reminiscent of maple syrup. Treatment Initial treatment of a neonate with MSUD requires a prompt reduction in the levels of the BCAAs. A: If you notice a very distinct sweet smell as you urinate, this could mean one of two things: maple syrup urine disease or diabetic ketoacidosis (DKA). See detailed information below for a list of 1 causes of Maple syrup smelling urine, including diseases and drug side effect causes. Normal urine is clear and has a straw-yellow color. In MSUD, encephalopathy occurs as a result of accumulation of the BCAA (particularly leucine), which are toxic at high concentrations. The byproduct of isoleucine has a characteristic sweet smell, which gives the disorder its name. Newborn screening for MSUD should ideally be done within the first 24 to 48 hours after birth. 1. However, these persons should be checked for a milder form of MSUD, especially if there are other symptoms of MSUD. We’ve looked in the attic, checked for bees, but there’s nothing. There are also conditions that can result in unusual urine odor, such as maple syrup urine disease, which causes the urine to smell like pancake syrup. Dr. Joanne Peck answered. This happens especially in the morning when there's a full diaper. While the odor of urine can vary somewhat, in most cases, it does not have a strong smell. Sweet-smelling urine may be caused by diet, diabetes, or maple syrup urine disease. ADULT EMERGENCY MANAGEMENT MAPLE SYRUP URINE DISEASE (MSUD) BACKGROUND MSUD is a disorder affecting the breakdown of branched chain amino acids (BCAA = Leucine, Isoleucine & Valine). Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of an enzyme complex (branched-chain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three branched-chain amino acids (BCAAs) leucine, isoleucine and valine, in the body. Work with your doctor or other health care professional for an accurate diagnosis. 1 thank. Certain foods, such as asparagus, can make urine smell. Maple syrup urine disease (MSUD) is a genetic disorder that leads to progressive nervous system degeneration and for some, brain damage. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis. Social Outcomes in adults with maple syrup urine disease. Maple syrup urine disease: A hereditary disease that is due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. A genetic disease: Infants with msud lack an enzyme to break down Amino Acids (proteins) in their diet, so the acids accumulate in their blood and tissues and become tox ... Read More. Maple syrup urine odor in children: Maple syrup urine odor in children is a child's urine that smells like maple syrup. 0. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. What would cause a ‘maple syrup’ smell in my closet, bathroom and bedroom? You may hear these called the branched-chain amino acids. Signs and symptoms. 0 comment. Severe maple syrup urine disease starts soon after birth. It all started at the gym. It is one type of organic acidemia. Just wondering if anyone else has … 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. Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Maple syrup smelling urine: Maple syrup smelling urine refers to urine that smells like maple syrup. » Review Causes of Maple syrup smelling urine: Causes. Charlie: Jolynn in Bay Oaks. Previous: Outlook / Prognosis. URINE in a healthy person should usually not have an apparent smell. It causes an inability for the body to break down the amino acids valine, leucine and isoleucine. Symptoms. Has anyone ever noticed their baby's urine smelling very sweet like maple syrup? » Review Causes of Maple syrup urine odor in children: Causes The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness. However, these persons should be checked for a milder form of MSUD, especially if there are other symptoms of MSUD. Plasma amino acids can seldom be measured … Vomiting. At times the peculiar maple syrup smell of the urine can occur in older, healthy children or adults who are non-symptomatic. Signs and symptoms in babies include: Poor feeding. Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body’s ability to metabolize amino acids. If your baby or child shows signs of MSUD, you should seek immediate medical care. Since mini pigs are now popularly taken in as house pets, other pig owners can attest to the fact that they do not generally give out any foul odor. 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. In maple syrup urine disease (MSUD), the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly. This causes a build-up of harmful levels of these substances in the blood. Urine odor: There are many reasons that urine may have an odor. Q: Why does my urine smell like maple syrup? I don't know if it's something in the diaper that reacts with the pee or if it's something in the pee? Parkinsonism and simple motor tics were also observed. A 39-year-old member asked: what's maple syrup urine disease? Abnormal movements or stiffness. What Mini Pigs Smell Like. Maple syrup urine disease is a metabolic disorder that causes certain amino acids to … More often than not, their smell should be the last of your worries. Protein is important for growth in children and health maintenance in adults. Mr. T in DC/flickr. The genetic defect that produces MSUD results in a defect in the enzyme called branched-chain alpha-keto acid dehydrogenase (BCKD), which is necessary for the breakdown of the amino acids leucine, isoleucine, and valine. Maple syrup urine odor in children: Introduction. J Inherit Metab Dis 30: 264 7 Frazier D et al (2014). Seizures. At times the peculiar maple syrup smell in the urine or sweat can occur in older, healthy children or adults who are non-symptomatic. When should I call my doctor about maple syrup urine disease (MSUD)? Symptoms of mild maple syrup urine disease in adults and children include: The disease is characterized by urine that smells like maple syrup due to which this condition became the name of the disease. See detailed information below for a list of 2 causes of Maple syrup urine odor in children, including diseases and drug side effect causes. That being said, you are still having this interesting smell, and it is curious where it might be coming from.