Maple syrup urine disease msud is an inborn error of metabolism. What are the symptoms of maple syrup urine disease and what. Symptoms of thiamineresponsive maple syrup urine disease or thiamineresponsive msud it is a rare form and seems to be responsive to treatment with thiamine vitamin b1. Get a printable copy pdf file of the complete article 443k, or click on a page image below to browse page by page. It may be divided into four major categories of classic, intermediate, intermittent, and thiamine responsive which carry differing symptoms and prognostic factors. Maple syrup urine disease msud is inherited, which means it is passed down through families. This involves a complex approach to maintain metabolic control. Treatment of the acute crisis in maple syrup urine disease. The mainstay in the treatment of maple syrup urine disease is dietary restriction of branchedchain amino acids bcaas. Some patients respond to high doses of thiamine, one of the b group of vitamins. Individuals with classic maple syrup urine disease have little or no enzyme activity usually less than 2 % of normal. Nutrition management guidelines for msud southeast. Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly.
All of the children are on a single drug to control rejection. Incidence of maple syrup urine disease in portugal. Treatment consists of dietary leucine restriction, bcaafree medical foods, judicious supplementation with isoleucine and valine, and frequent clinical and biochemical monitoring. Phenylbutyrate therapy for maple syrup urine disease full. Parent fact sheet maple syrup urine disease msud maple. Symptoms of e3deficient maple syrup urine disease or. If left untreated, it places newborns at risk for lifethreatening health problems, including episodes of illness called metabolic crisis. Pediatric maple syrup urine disease childrens pittsburgh. A distinctive sweet, maple syrup odor of the ear wax and urine. Renal replacement therapy using continuous venovenous. A medical formula is a very important part of the diet for msud. Maple syrup urine disease causes, symptoms, diagnosis.
Clinical symptoms onset of symptoms can be within the first week of life. Feb 11, 2016 maple syrup urine disease msud is an autosomal recessive disorder which can be caused by mutation in at least three genes. Twelve hours after birth, untreated neonates with classic msud have a maple syrup odor in cerumen. Full text full text is available as a scanned copy of the original print version. We developed a collaborative multidisciplinary effort to evaluate the. Editor,maple syrup urine disease msud is an autosomal recessive disease associated with defects in the branched chain. Classic maple syrup urine disease is the most common type. This chapter discusses maple syrup urine disease, including clinical and biochemical abnormalities, factors to be considered in nutritional evaluation, and dietary treatment. 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. Thiaminresponsive msud is clinically similar to intermediate msud with thiamin therapy improving dietary leucine tolerance.
Newborn screening is done on tiny samples of blood taken from your babys heel 24 to 36 hours after birth. Adolescents with the condition may have attention deficit hyperactivity disorder, anxiety and developmental delay. Classic msud is the severe and most common form of the disease. Maple syrup urine disease msud is a metabolic disorder in which your body cant break down certain amino acids. Msud is amenable to treatment through dietary restriction of bcaas, and.
Maple syrup urine disease an overview sciencedirect topics. Early neonatal symptoms include poor feeding, lethargy, seizures, coma. Aug 31, 2017 maple syrup urine disease msud is an inherited metabolic disorder. Maple syrup urine disease can vary in age of onset and severity.
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. Deficiency of an enzyme called bckd causes buildup of amino acids in the body. In treatment of metabolic imbalances caused by maple syrup urine disease msud, peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be. We also performed in vitro and in vivo experiments to elucidate the mechanism for this effect. Maple syrup urine disease msud can affect different individuals in a different way depending on the defect and therefore, is seen in mild to severe forms. Treatment consists of a low protein diet with restriction of the branched chain amino acids and a special formula.
In this study, we aimed to identify simple variables associated with amd in. Maple syrup urine disease msud is an autosomal recessive metabolic disorder affecting branchedchain 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. These are typically characterized as classic, intermediate, intermittent and other rare forms of maple syrup urine disease msud. Maple syrup urine disease nord national organization for. What are the symptoms of maple syrup urine disease and. Maple syrup urine disease msud is a rare autosomal recessive disorder caused by defective oxidative decarboxylation of the branchedchain amino acids valine, isoleucine, and leucine. If untreated, msud causes mental retardation, physical disabilities and death. Msud is a condition in which the body cannot break down the essential amino acids leucine, isoleucine, and valine. Msud usually leads quickly to encephalopathy, spasticity, coma, seizures and death. Msud is a genetic disorder that is inherited from both parents by what is called recessive inheritance. Maple syrup urine disease genetic and rare diseases. Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower bcaa and their corresponding. A case of reversible blindness in maple syrup urine disease.
This disease is so named because the urine of affected people smells like maple syrup. May 10, 2012 intermediate maple syrup urine disease is a variant of the classic type. Anaesthetic management in maple syrup urine disease. Elective liver transplantation for the treatment of. Maple syrup urine disease is related to a deficiency of the metabolism of the branched chain amino acids lleucine, lisoleutine, and lvaline. Symptoms similar to intermediate form of msud may be seen in infancy. Meticulous treatment is very important as there is a high risk of neurological complications including cerebral oedema. People with msud have problems breaking down certain amino acids found in protein. Symptoms maple syrup urine disease causes maple syrup urine disease prevention maple syrup urine disease genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease. The accumulation of metabolites in the urine leads to. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name.
Acute metabolic decompensation amd of maple syrup urine disease msud must be promptly recognized and treated. Maple syrup urine disease nord national organization. The management of a case with maple syrup urine disease with. It presents soon after birth with symptoms that may include1. Normally, our bodies break down protein foods such as. Maple syrup urine disease msud maple syrup urine disease is an autosomal recessive disorder caused by the inability to metabolize the amino acids leucine, isoleucine and valine. Maple syrup urine disease msud is a rare autosomal recessive disorder that causes acute and chronic brain dysfunction because of a neurotoxic effect of the accumulating branched chain amino acids bcaa and their corresponding keto acids. Treatment of the acute crisis in maple syrup urine disease william l. May 02, 2018 the two main approaches to the treatment of maple syrup urine disease msud include 1 longterm daily dietary management and 2 treatment of episodes of acute metabolic decompensation. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for msud is now commonplace in the united states and is. Msud is a genetic disorder that is inherited from both parents by what is. The disease is inherited as autosomal recessive, with a general incidence near 1.
Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy lethargy, seizures, and developmental delay. Infants with this type of maple syrup urine disease will show symptoms within the first several days of life. It is also characterized by poor feeding, vomiting, lack of energy lethargy, abnormal movements, and delayed development. Having such defective genes may result in either nonproduction or malfunctioning of the related enzymes. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. Maple syrup urine disease acute decompensation msud, maple syrup disease standard version please read carefully. Treatment of children with msud must be started as soon as possible. What are the symptoms of maple syrup urine disease and what treatment is available. Maple syrup urine disease msud maple syrup urine disease what is msud. Contact details name british inherited metabolic disease. It is also characterized by poor feeding, vomiting, lack of energy lethargy. Definition maple syrup urine disease msud is an inherited disorder of.
May 10, 2012 maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly. The condition gets its name from the distinctive sweet odor of affected infants urine. Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. Maple syrup urine disease msud is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Maple syrup urine disease genetics home reference nih. The investigators have learned in past research that the drug phenylbutyrate can decrease the amounts of branched chain amino acids and their byproducts in the bloodstreams of healthy volunteer patients and also patients with certain disorders of protein breakdown including maple syrup urine disease. It is named for the sweet maple syrup smell of the urine in untreated babies. A special, carefully controlled diet is the focus of daily treatment. Dec 26, 2018 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 these. In msud, leucine, isoleucine, and valine branched chain amino acids cannot be metabolized further than their.
Maple syrup urine disease msud is an autosomal recessive condition with an incidence of. Contact details name british inherited metabolic disease group. Maple syrup urine disease msud is a disorder affecting the breakdown of. A case study of maple syrup urine disease, dietary. Phenylbutyrate therapy for maple syrup urine disease. Newborn screening is done on tiny samples of blood taken from.
Maple syrup urine disease msud family fact sheet what is a positive newborn screen. The disease takes its name from the characteristic maple syrup odour of the urine from a metabolite of isoleucine 5. The acute crisis of metabolic decompensation in maple syrup urine disease is a potentially le. Sick day protocol usually entails guidelines on increasing bcaafree. Maple syrup urine disease msud 0317 integrated genetics. This leads to a buildup of these chemicals in the blood. Maple syrup urine disease msud information for healthcare. A case study of maple syrup urine disease, dietary treatment. Emergency management protocol for maple syrup urine disease msud screening newborn screening program of the oklahoma state department of health differential diagnosis. The characteristic feature of maple syrup urine disease is.
Maple syrup urine disease, or msud, is an inherited, genetic disorder caused by a defect in three enzymes that help break down protein from. 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 information for physicians and other health care professionals 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 defects in the catabolism of the amino acids leucine, isoleucine and valine. Maple syrup urine disease msud is an autosomal recessive inherited disorder, caused by a deficiency on branched chain. The official name for msud is branchedchain alphaketoacid dehydrogenase deficiency, but it is called msud because the urine from untreated infants with this. This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease msud in an 18yearold male. The amino acids and organic acids accumulate and produce severe toxicity. 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 msud metabolic condition amino acid disorder. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. Nord is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. Links to pubmed are also available for selected references. It is one of the most commonly seen metabolic diseases in turkey 2. Maple syrup urine disease msud is a rare but serious inherited condition.
The condition gets its name from the distinctive sweet odor of affected infants urine, particularly prior to diagnosis, and during times of acute illness. Maple syrup urine disease sydney childrens hospital. Contact the family within one hour of notification. 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. Newborn screening for msud should ideally be done within the first 24 to 48 hours after birth. Symptoms are evident soon after birth and may include. The treatment of msud is twostage, consisting of therapy to prevent acute decompensation. Pdf phenylbutyrate therapy for maple syrup urine disease. These crises occur during the initial neonatal episode, during which most patients receive their diagnosis, and later following dietary indiscretion, surgery, injury, or. If the instructions do not make sense or a problem is not addressed you must discuss. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Four out of 10 of our recently transplanted maple syrup urine disease msud patients experienced a mild episode of rejection that did require a brief course of steroids. Prompt treatment is needed to prevent brain damage and other serious medical problems. Failure to thrive and feeding difficulties are also common. Implications of maple syrup urine disease in newborns. Some of these patients may respond to thiamine one of the b group vitamins, but this treatment is not useful in the usual form of msud. What are the risks of transplant treatment for maple syrup urine disease. Maple syrup urine disease, or msud, is an inherited, genetic disorder caused by a defect in three enzymes that help break down protein from food. Maple syrup urine disease msud is an inborn error of metabolism caused. It is managed through diet with severe protein restriction. Maple syrup urine disease msud is an inherited metabolic disorder that affects the bodys ability to metabolize amino acids. Oct 11, 2016 maple syrup urine disease msud is a metabolic disorder in which your body cant break down certain amino acids. Maple syrup urine disease msud is a metabolic disorder. The accumulation of metabolites in the urine leads to the characteristic odor resembling maple syrup. In the acute stage, brain swelling and diffuse edema exhibit high signal intensity on t2weighted imaging and low signal intensity on t1weighted imaging.
Individuals with intermediate maple syrup urine disease have a higher level of enzyme activity approximately 3 to 8% of normal and can tolerate a greater amount of leucine. Aminoaciduria was suggested as the possible diagnosis with a suggestion to rule out msud. Full text is available as a scanned copy of the original print version. Msud is an inherited disorder in which the baby is unable to use parts of protein found in food and milk. Classic msud presents in the first days of life with poor feeding and. These genes encode the components of the branchedchain alphaketo acid dehydrogenase bckad complex, which catalyses the catabolism of the branchedchain amino acids bcaas, leucine, isoleucine and valine. Phenylbutyrate therapy for maple syrup urine disease msud the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
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