Your baby needs to have urgent blood tests and a urine test to confirm the diagnosis. Definition of maple syrup urine disease medicinenet. John menkes as the inability to metabolize the branched chain amino acids bcaas. Maple syrup urine disease derives its name from the characteristic odor of the urine. Treatment of the acute crisis in maple syrup urine disease. Outcomesresolutions if left untreated, newborns with maple syrup urine disease have a poor prognosis, with developmental delays.
Maple syrup urine disease msud is inherited, which means it is passed down through families. Everything you need to know about maple syrup urine disease. Elevated leucine is responsible for brain injury and. Medical home portal maple syrup urine disease msud. Grade 12 biology project, draw my life video explaining maple syrup urine disease. Complications of maple syrup urine disease in infants. Maple syrup urine disease msud type 1b is an inherited metabolic disorder named for the characteristic maple syrup smell of the affected persons urine. Maple syrup urine disease msud is a potentially lifethreatening metabolic disorder caused by decreased activity of the branchedchain.
Maple syrup urine disease an overview sciencedirect topics. In this study, we aimed to identify simple variables associated with amd in. The urine of people with this condition can smell like maple syrup. A geneticist or a physician that specializes in metabolic diseases may b. Maple syrup urine disease msud is a rare but serious inherited condition. Dietary restriction of leucine and use of high calorie diet free of branched chain amino acids. The urine of such patients has an odor like maple syrup, thus the name maple syrup urine disease. Treatment of the episode of acute metabolic decompensation in maple syrup urine disease msud is a medical emergency. Maple syrup urine disease or msud also called branchedchain ketonuria, is a genetic disorder.
This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease msud in an 18yearold male. Dietary treatment of a child with maple syrup urine. They may also develop brain damage, have seizures and go into coma, leading to death, within a. If maple syrup urine disease is suspected, a variety of lab tests will be ordered. Maple syrup urine disease msud is a genetic disorder and is caused by changes or mutations in some genes that signal the body to produce certain enzymes necessary for digestion and metabolism. Maple syrup urine disease this rare inherited metabolic disease has been named after the unusual odour of the urine, sweat and ear wax that arises in the untreated condition. Maple syrup urine disease msud is a rare genetic disorder that affects around 1 in 185,000 people in america today. In maple syrup urine disease, the three branchedchain amino acids leucine, isoleucine, and valine cannot be metabolized processed, and they build up in the blood, causing problems with brain function and.
What is the prognosis of maple syrup urine disease. Get a printable copy pdf file of the complete article 443k, or click on a page image below to browse page by page. Maple syrup urine disease is due to mutations in any aspect of the mitochondrial branchedchain alphaketo acid dehydrogenase complex 8. Maple syrup urine disease radiology reference article.
Find resources on msud to aid in caring for your child or patient. Get a printable copy pdf file of the complete article 1. Maple syrup urine disease msud is a metabolic disorder in which your body cant break down certain amino acids. Here are the ones for the management of an acute decompensation in children and adults with maple syrup urine disease. A case study of maple syrup urine disease, dietary.
Maple syrup urine disease is related to a deficiency of the metabolism of the branched chain amino acids lleucine, lisoleutine, and lvaline. Acute metabolic decompensation amd of maple syrup urine disease msud must be promptly recognized and treated. Maple syrup urine disease msud what is maple syrup urine disease msud. Maple syrup urine disease is inherited in an autosomal recessive fashion. Classic msud is the severe and most common form of the disease. It means the body cannot process certain amino acids the building blocks of protein, causing a harmful buildup of substances in the blood and urine.
Maple syrup urine disease is an autosomal recessive disorder caused by the inability to metabolize the amino acids leucine, isoleucine and valine. Normally, these amino acids are metabolized, step by step, by a number of enzymes, each of which is specific for each step in the metabolism of each amino acid. Complications from undiagnosed and untreated msud can be severe and fatal too. The diagnosis can be confirmed by enzyme analysis and mutation analysis of the bckad genes. Links to pubmed are also available for selected references. Maple syrup urine disease msud is an autosomal recessive metabolic disorder affecting branchedchain amino acids.
Maple syrup urine disease msud is an inborn error of metabolism caused by defects in the branchedchain. Maple syrup urine disease symptoms, diagnosis, treatments. On transfer to university college hospital at the age of 8. It presents soon after birth with symptoms that may include1. Maple syrup urine disease is a metabolic disorder caused by a deficiency of the branchedchain alphaketo acid dehydrogenase complex that results in accumulation of branchedchain amino acids including leucine, isoleucine, and valine. Infants with this type of maple syrup urine disease will show symptoms within the first several days of life. If both parents carry a mutated gene, there is a 25% chance that their child will inherit both copies and develop the disease and a 50% chance they will inherit only one copy and become an unaffected carrier. Definition maple syrup urine disease msud is an inherited disorder of amino acid metabolism, caused by a deficiency in an enzyme complex that results in. Individuals with classic maple syrup urine disease have little or no enzyme activity usually less than 2 % of normal. What are the symptoms of maple syrup urine disease and what treatment is available. It is managed through diet with severe protein restriction. Intermittent forms of the disease may present later 5 months to 2 years of age and can be precipitated by concomitant infection or a high protein intake 8.
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly. This occurs when there is a sudden and intense increase of branched chain amino acids in the system. Maple syrup urine disease is an autosomal recessive disorder caused by a deficiency in the activity of the branchedchain. Maple syrup urine disease msud metabolic condition. Classic maple syrup urine disease is the most common type. Thiaminresponsive maple syrup urine disease the british inherited metabolic disease group bimdg has published on its website guidelines for the emergency management of patients with inherited metabolic disorders. Maple syrup urine disease msud is a rare genetic disorder characterized by deficiency of certain enzymes branchedchain alphaketo acid dehydrogenase complex required to break down metabolize the three branchedchain amino acids bcaas leucine, isoleucine and valine in the body. Maple syrup urine disease can vary in age of onset and severity. Autosomal recessive inheritance is when a mutation or change occurs in both copies of a gene, the one inherited from the mother and the one inherited from the father. Maple syrup urine disease msud is an autosomal recessive condition with an incidence of approximately 1 in 150 000 live births with a higher incidence. It is caused by an enzymatic deficiency with reduction in oxidative decarboxylation of branchedchain amino acids bcaa leucine. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy lethargy, seizures, and developmental delay. The condition gets its name from the distinctive sweet odor of affected infants urine, particularly prior to diagnosis, and during times of acute illness. A distinctive sweet, maple syrup odor of the ear wax and urine.
Maple syrup urine disease genetic and rare diseases. Since maple syrup urine disease usually presents in the neonatal period, a neonatologist would likely be the one ordering the biochemical tests. Children since msud is a recessive genetic disorder, it can be passed from parents to children. Other milder variants of the disease do exist and tend to occur as late as childhood. These crises occur during the initial neonatal episode, during which most patients receive their diagnosis, and later following dietary indiscretion, surgery, injury, or, most often, intercurrent infection. It is now known to be a metabolic defect characterized by an accumulation of the three keto acids corresponding to the partial breakdown of the three branchedchain amino acids, leucine, isoleucine, and valine, which occur in excess in urine, blood, and other body fluids.
Maple syrup urine disease genetics home reference nih. Even the babies in a treatment plan can experience incidents of extreme sickness called metabolic crises. In the acute stage, brain swelling and diffuse edema exhibit high signal intensity on t2weighted imaging and low signal intensity on t1weighted imaging. It is also characterized by poor feeding, vomiting, lack of energy lethargy, abnormal movements, and delayed development. Children with classic msud present with ketonuria and lethargy progressing to coma if not treated. The condition gets its name from the distinctive sweet odor of affected infants urine. Maple syrup urine disease sydney childrens hospital. Maple syrup urine disease msud is a disorder in which the body cannot break down certain parts of proteins. Health problems occur because the body is unable to break down three amino acids part of the 20. If carefully treated with a lowprotein diet, people with msud can live fairly normal lives. Maple syrup urine disease msud is a treatable disorder that affects the way the body processes protein. Maple syrup urine disease msud is a subtype of organic acidemia, and is a disorder in which the body cannot break down certain parts of proteins. Maple syrup urine disease uf health, university of. Information about the openaccess article maple syrup urine disease.
Pdf clinical and biochemical profiles of maple syrup. In msud, due to the lack of an enzyme, the body cannot properly deal with three amino acids, leucine, isoleucine and valine collectively known as the branched chain amino acids bcaas. What are the symptoms of maple syrup urine disease and. Maple syrup urine disease msud the building blocks of protein are called amino acids. Maple syrup urine disease msud is an autosomal recessive condition with an incidence of approximately 1 in 150 000 live births with a higher incidence amongst children from consanguineous relationships 1. Maple syrup urine disease nord national organization. Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. Enable javascript to view the expandcollapse boxes. Maple syrup urine disease is a rare genetic metabolic disorder where the body cannot break down branched chain amino acids like valine, leucine, and isoleucine completely, causing buildup of.
There is a maple syrup odor in the urine, whence the name of the disorder. Maple syrup urine disease msud is a metabolic disorder. Maple syrup urine disease was described as a new syndrome by menkes, hurst, and craig 1 in 1954. Incidence of maple syrup urine disease in portugal. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of maple syrup urine disease. Maple syrup urine disease msud department of health. Msud also known as branched chain ketoaciduria was discovered in 1954 by dr. A hereditary disease that is due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup. Having such defective genes may result in either nonproduction or malfunctioning of the related enzymes. This rare disorder represents one of the causes of acute neonatal illness which results in devastating disturbances of neurological development. Msud maple syrup urine disease virginia department of health. Maple syrup urine disease, inherited metabolic disorder involving leucine, isoleucine, and valine a group of branch chain amino acids. A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids leucine, isoleucine and valine and resulting in severe illness which generally leads to death if not treated. Maple syrup urine disease causes, symptoms, diagnosis.
1154 735 1217 42 542 802 1403 104 1442 626 1370 852 900 1362 1471 638 396 687 1199 682 190 742 1384 1445 1228 1223 147 50