Symptoms. Because these amino acids do not get broken down completely, high levels accumulate in the blood, urine and sweat. 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. At times the peculiar maple syrup smell in the urine or sweat can occur in older, healthy children or adults who are non-symptomatic. Maple syrup urine disease (MSUD) is a metabolic disorder that is genetically inherited 2. Seizures. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders.  Maple syrup urine disease (MSUD) is a genetic disorder that leads to progressive nervous system degeneration and for some, brain damage. At times the peculiar maple syrup smell of the urine can occur in older, healthy children or adults who are non-symptomatic. I don't know if it's something in the diaper that reacts with the pee or if it's something in the pee? 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. Treatment Initial treatment of a neonate with MSUD requires a prompt reduction in the levels of the BCAAs. In maple syrup urine disease, when the enzyme is missing, protein cannot be fully broken down for use by the body. This happens especially in the morning when there's a full diaper. What Mini Pigs Smell Like. Work with your doctor or other health care professional for an accurate diagnosis. Signs and symptoms in babies include: Poor feeding. Abnormal movements or stiffness. » Review Causes of Maple syrup smelling urine: Causes. Symptoms of mild maple syrup urine disease in adults and children include: 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. Has anyone ever noticed their baby's urine smelling very sweet like maple syrup? Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Newborn screening for MSUD should ideally be done within the first 24 to 48 hours after birth. 0. However, these persons should be checked for a milder form of MSUD, especially if there are other symptoms of MSUD. 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. The byproduct of isoleucine has a characteristic sweet smell, which gives the disorder its name. 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. However, these persons should be checked for a milder form of MSUD, especially if there are other symptoms of MSUD. 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. J Inherit Metab Dis 30: 264 7 Frazier D et al (2014). Want to know more about maple syrup urine disease and … She writes: “About three weeks ago my bedroom closet and bathroom started smelling like maple syrup. Maple syrup urine disease is a metabolic disorder that causes certain amino acids to … 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 smelling urine: Maple syrup smelling urine refers to urine that smells like maple syrup. 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. 1. Certain foods, such as asparagus, can make urine smell. URINE in a healthy person should usually not have an apparent smell. Mr. T in DC/flickr. Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body’s ability to metabolize amino acids. A 39-year-old member asked: what's maple syrup urine disease? If … The Mystery of the Maple Syrup Smell. Maple syrup urine odor in children: Introduction. Just wondering if anyone else has … » Review Causes of Maple syrup urine odor in children: Causes Maple syrup urine disease (MSUD, MIM #248600) also known as branched-chain ketoaciduria, is a disorder affecting the aliphatic or branched-chain amino acids. Failure to move and be active (lethargy). Urine odor: There are many reasons that urine may have an odor. This causes a build-up of harmful levels of these substances in the blood. When should I call my doctor about maple syrup urine disease (MSUD)? 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. Learn why urine may smell sweet, treatments, and when to see a doctor. These three amino acids all share a similar branched shape. 45 years experience Pediatrics. Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Signs and symptoms depend on the type of maple syrup urine disease. 1 thank. maple syrup urine disease in adults. In MSUD, encephalopathy occurs as a result of accumulation of the BCAA (particularly leucine), which are toxic at high concentrations. In maple syrup urine disease (MSUD), the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly. Signs and symptoms. 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. It is one type of organic acidemia. If left untreated, it places newborns at risk for life-threatening health problems, including episodes of illness called metabolic crisis. Protein is important for growth in children and health maintenance in adults. Q: Why does my urine smell like maple syrup? Dr. Joanne Peck answered. Scarlett Lindeman June 14, 2010. More often than not, their smell should be the last of your worries. 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. If your baby or child shows signs of MSUD, you should seek immediate medical care. 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. Severe maple syrup urine disease starts soon after birth. 0 comment. Maple syrup urine odor in children: Maple syrup urine odor in children is a child's urine that smells like maple syrup. Sweet-smelling urine may be caused by diet, diabetes, or maple syrup urine disease. The reason for this is unknown. Social Outcomes in adults with maple syrup urine disease. In fact, some mini pig owners claim that their pet gives out a sweet smell reminiscent of maple syrup. Charlie: Jolynn in Bay Oaks. 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. That being said, you are still having this interesting smell, and it is curious where it might be coming from. It causes an inability for the body to break down the amino acids valine, leucine and isoleucine. The disease is characterized by urine that smells like maple syrup due to which this condition became the name of the disease. Do you mysteriously smell maple syrup everywhere? 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. We’ve looked in the attic, checked for bees, but there’s nothing. Dehydration makes urine stronger, which can result in an increase in odor. What would cause a ‘maple syrup’ smell in my closet, bathroom and bedroom? Plasma amino acids can seldom be measured … Vomiting. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness. BCKAD is a group of four enzymes that work together to break down the amino acids leucine, isoleucine, and valine for energy. With dehydration, the urine is more concentrated and may have a stronger ammonia scent than normal. This leads to accumulation of protein in the body. You may hear these called the branched-chain amino acids. 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). 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. 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). Normal urine is clear and has a straw-yellow color. See detailed information below for a list of 2 causes of Maple syrup urine odor in children, including diseases and drug side effect causes. While the odor of urine can vary somewhat, in most cases, it does not have a strong smell. Previous: Outlook / Prognosis. It all started at the gym. 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. See detailed information below for a list of 1 causes of Maple syrup smelling urine, including diseases and drug side effect causes.