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Topic: Maple syrup urine disease

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	Maple Syrup Urine Disease (MSUD)
		Maple Syrup Urine Disease (MSUD) was first described in 1954 in a family with four successive affected newborns.
		MSUD is caused by a deficiency in the ability to decarboxylate branched-chain amino acids.
		Because the diagnosis and therapy of MSUD is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist.
	www.pediatrix.com /body_screening_menu.cfm?id=1579 (833 words)

	Maple syrup urine disease - Genetics Home Reference
		Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.
		Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause.
		Mutations in the BCKDHA, BCKDHB, DBT, and DLD genes cause maple syrup urine disease.
	ghr.nlm.nih.gov /condition=maplesyrupurinedisease (740 words)

	MDCH - Maple Syrup Urine Disease Testing
		Maple syrup urine disease (MSUD) is the result of a biochemical defect in branched chain amino acid decarboxylation at the keto acid level.
		The disease results in severe symptoms beginning as early as 6 days of age which can include vomiting, a constant shrill cry, and loss of appetite, and which may be followed by convulsions, coma, and respiratory problems.
		MSUD is screened for by assaying leucine levels in the blood stream.
	www.michigan.gov /mdch/0,1607,7-132-2945_5103_5277-14742--,00.html (187 words)

	MSUD
		Maple Syrup Urine Disease (MSUD) is a disorder abnormally affecting the metabolism of amino acids.
		The gene defect for MSUD is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation.
		The disease derives its name from the sweet, burnt sugar, or maple syrup smell of the urine.
	www.savebabies.org /diseasedescriptions/msud.php (429 words)

	Maple Syrup Urine Disease - NewbornScreening.Com (Site not responding. Last check: 2007-09-04)
		Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive inherited disorder of catabolism of the branched chain amino acids (BCAA) leucine, isoleucine, and valine and their respective branched chain ketoacids (BCKA).
		Classic MSUD is due to absent activity of the mitochondrial enzyme complex-branched chain alpha-ketoacid dehydrogenase.
		Because the ingestion of the branched chain amino acids exceeds metabolic requirements for growth, and catabolism of the excess amino acids is blocked, the BCAA and BCKA accumulate in blood and are excreted in the urine.
	www.newbornscreening.com /cms/Maple_Syrup_Urine_Disease.shtml (601 words)

	Maple Syrup Urine Disease (MSUD) General Overview
		Maple syrup urine disease (MSUD) is a treatable disorder that affects the way the body processes protein.
		Maple syrup urine disease is treated with a special diet that is low in branched-chain amino acids.
		Maple syrup urine disease is an inherited disorder.
	www.doh.wa.gov /EHSPHL/PHL/Newborn/msudgo.htm (547 words)

	MSUD: An Introduction
		Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death.
		MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine.
		The first symptoms in an infant are poor appetite, irritability, and the characteristic odor of the urine.
	www.msud-support.org /intro.htm (805 words)

	What Maple Syrup Urine Disease (MSUD)is
		Maple Syrup Disease (MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death.
		MSUD is a rare disorder and believed to be in all ethnic groups worldwide.
		The earliest symptoms of classic MSUD, usually observed in the first few days of life, are poor appetite, irritability, and the characteristic odor of the urine.
	www.angelfire.com /nc2/court1/msud.html (773 words)

	MedlinePlus Medical Encyclopedia: Maple syrup urine disease
		Maple syrup urine disease is an inherited disease of amino acid metabolism that causes acidosis, central nervous system symptoms, and urine that may smell sweet like maple syrup.
		Maple syrup urine disease (MSUD) is caused by the inability to metabolize the branched-chain amino acids leucine, isoleucine, and valine.
		Genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease.
	www.nlm.nih.gov /medlineplus/ency/article/000373.htm (661 words)

	Maple syrup urine disease - Wikipedia, the free encyclopedia
		Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder due to a deficiency of Branched chain α-keto acid dehydrogenase (BCKDH) that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine.
		Characterized by the urine having an odor similar to that of maple syrup, this results in severe mental retardation, and seizures.
		Maple syrup urine disease is inherited in an autosomal recessive pattern.
	en.wikipedia.org /wiki/Maple_syrup_urine_disease (499 words)

	eMedicine - Maple Syrup Urine Disease : Article Excerpt by: Olaf A Bodamer, MD, PhD, FACMG (Site not responding. Last check: 2007-09-04)
		Background: Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.
		In 1960, Dancis et al demonstrated that the enzymatic defect in MSUD was at the level of the decarboxylation of the branched-chain amino acids.
		Accumulation, of leucine in particular, causes neurological symptoms, whereas elevation of plasma isoleucine is associated with the maple syrup odor.
	www.emedicine.com /ped/byname/maple-syrup-urine-disease.htm (609 words)

	Welcome to our website: www.msud-support.org
		The MSUD Family Support Group is a non-profit 501 (c)(3) organization for those with MSUD and their families and includes health-care professionals and others interested in MSUD.
		In 1983 the first MSUD Newsletter was printed and distributed throughout the United States and Canada. The Newsletter continues to provide the latest information on the treatment of the disorder, reports on the latest research, current diet information, family news and related topics.
		The MSUD Family Support Group membership now includes families and professionals worldwide. This growing organization continues to develop resources to meet its goals of support and education. Informed families and professionals can provide better care for the child with MSUD. Treatment has improved and the future continues to brighten for these children and their families.
	www.msud-support.org (328 words)

	Maple syrup urine disease Information on Healthline
		Maple syrup urine disease is an inherited disease of amino acid
		Maple syrup urine disease (MSUD) is caused by the inability to metabolize the branched-chain
		High doses of intravenous fluid, sugar and fat are given to prevent dehydration and provide energy to stimulate protein synthesis, which lowers the levels of the amino acids that cannot be broken down.
	www.healthline.com /adamcontent/maple-syrup-urine-disease (512 words)

	Maple syrup urine disease
		The disease is inherited as an autosomal recessive disorder, but where this would normally imply that it is caused by the mutation of a single gene, MSUD can arise from mutations in several genes.
		Several efforts have been undertaken to add MSUD to the list of diseases for which newborn infants are regularly checked, but in the United States this process is largely state-dependent.
		Therefore, MSUD patients must ingest special formulas that limit their dietary intake of BCAAs, and because the severity of symptoms varies greatly from person to person, diets must be carefully tailored.
	pubs.acs.org /subscribe/journals/mdd/v05/i03/html/03disease.html (602 words)

	ScienceDaily: Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease
		MSUD is a metabolic disease which causes amino acids from proteins to accumulate in the body.
		In 1997, an MSUD patient at another hospital received a liver transplant due to an unrelated medical condition and physicians noticed the symptoms of her MSUD were alleviated.
		Liver transplantation -- Liver transplantation is the replacement of a diseased liver with a healthy liver allograft.
	www.sciencedaily.com /releases/2006/04/060410161437.htm (1966 words)

	ScienceDaily: Children With Maple Syrup Urine Disease Celebrate One-Year Post-Transplant -- Kids No Longer Have ...
		MSUD is a metabolic disorder that causes amino acids from proteins to accumulate in the body, which can have a toxic effect and lead to brain swelling, neurological damage and death.
		People suffering from MSUD are unable to metabolize the branched-chain amino acids leucine, isoleucine and valine, which are present in all protein foods such as meat, eggs and milk.
		To develop the MSUD transplant protocol, Dr. Mazariegos and a team of experts in genetics, pharmacology, biology, chemistry and other areas at Children's, worked in conjunction with metabolic experts from the Clinic for Special Children.
	www.sciencedaily.com /releases/2005/06/050624102658.htm (2157 words)

	Disease, maple syrup urine definition - Medical Dictionary definitions of popular medical terms (Site not responding. Last check: 2007-09-04)
		Disease, maple syrup urine: Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup.
		Untreated maple syrup urine disease (MSUD) causes mental retardation, physical disability and death.
		MSUD is a component of many newborn screening programs.
	www.medterms.com /script/main/art.asp?articlekey=3049 (184 words)

	eMedicine - Maple Syrup Urine Disease : Article by Olaf A Bodamer, MD, PhD, FACMG (Site not responding. Last check: 2007-09-04)
		Ketosis and the characteristic odor of maple syrup in the urine usually are present when the first symptoms develop.
		Newborn screening for MSUD is performed with tandem mass spectrometry by using concentrations of leucine and isoleucine and the Fisher Ratio (branch-chain amino acids/phenylalanine and tyrosine) as diagnostic measures.
		Patients with MSUD are at risk for metabolic decompensation during periods of increased catabolism.
	www.emedicine.com /ped/topic1368.htm (2585 words)

	Maple Syrup Urine Disease
		It is possible that the main title of the report Maple Syrup Urine Disease is not the name you expected.
		Maple Syrup Urine Disease (MSUD) is an extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat.
		MSUD is manageable, just as diabetes is manageable, but care and attention must be given to diet and to the treatment of even minor illnesses.
	www.meritcare.com /hwdb/showtopic.aspx?pd_hwid=nord131 (545 words)

	Maple syrup urine disease (Disease)... Fort Lauderdale, Florida (Site not responding. Last check: 2007-09-04)
		Maple syrup in urine disease is an inheritable metabolic disease of amino acid metabolism characterized by acidosis, central nervous system symptoms, and urine that may smell sweet like maple syrup.
		Maple syrup urine disease (MSUD) is caused by the inability to metabolize the so-called ´branched-chain´ amino acids leucine, isoleucine, and valine.
		Even in the mildest form, MSUD results in mental retardation and bouts of acidosis precipitated by stresses such as ordinary infections.
	www.browardhealth.org /17516.cfm (642 words)

	Newborn Screening Program - Maple Syrup Urine Disease
		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.
		MSUD has an estimated incidence between one in 100,000 to one in 300,000 births.
		MSUD is inherited in an autosomal recessive pattern.
	www.idph.state.il.us /HealthWellness/fs/msud.htm (642 words)

	healthfinder® — Maple Syrup Urine Diseases Family Support Group - MSUD FSG
		The Maple Syrup Urine Disease (MSUD) Family Support Group provides opportunities for support and personal contact for those with MSUD and their families.
		MSUD, which derives its name from the distinct sweet smell of the urine, affects the way the body metabolizes certain components of protein.
		The purpose of the support group, which began in 1983, is to gather and distribute information on MSUD, strengthen the liaison between families and professionals, and encourage research and newborn screening for MSUD.
	www.healthfinder.gov /orgs/HR2432.htm (127 words)

	Maple syrup urine disease - References - Genetics Home Reference
		These sources were used to develop the Genetics Home Reference condition summary on maple syrup urine disease.
		Diagnosis and treatment of maple syrup disease: a study of 36 patients.
		Scriver, Charles R; The metabolic and molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001.
	ghr.nlm.nih.gov /condition=maplesyrupurinedisease/show/References (94 words)

	Maple Syrup Urine Disease / Family Village Library (Site not responding. Last check: 2007-09-04)
		The Maple Syrup Urine Disease Family Support Group has a mission is to help other families to adjust to having a child with Maple Urine Syrup Disease and encourage newborn screening.
		The MSUD Family Support Group collects information on physicians and researchers who treat or study the condition and disseminate this information to its membership.
		MSUD is a potentially life threatening metabolic disorder.
	www.familyvillage.wisc.edu /lib_msud.htm (194 words)

	NEJM -- Domino Hepatic Transplantation in Maple Syrup Urine Disease
		NEJM -- Domino Hepatic Transplantation in Maple Syrup Urine Disease
		Domino Hepatic Transplantation in Maple Syrup Urine Disease
		Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
	content.nejm.org /cgi/content/short/353/22/2410 (133 words)

	Caring for Your Baby: Testing the Newborn for Metabolic Birth Defects (via CobWeb/3.1 planetlab2.cs.umd.edu) (Site not responding. Last check: 2007-09-04)
		This inherited blood disease causes bouts of pain; damage to vital organs such as the lungs, kidneys and brain; and, sometimes serious infections and death in childhood.
		Lifelong treatment with the missing hormones suppresses the disease.
		Early detection of hearing loss allows the baby to be fitted with hearing aids before 6 months of age.
	www.marchofdimes.com.cob-web.org:8888 /pnhec/298_834.asp (929 words)

	Courtney, maple syrup Urine disease
		Because of this disease, I am sick a lot, and that means two things.
		Sometimes my disease makes me too tired to dance and as you might imagine, I do not like that.
		This disease is not something you can catch from me, so don't worry about that, either.
	www.lehman.cuny.edu /faculty/jfleitas/bandaides/court.html (1063 words)

	NORD - National Organization for Rare Disorders, Inc. (Site not responding. Last check: 2007-09-04)
		Many libraries, schools, universities, and hospitals subscribe to NORD's Rare Disease Database for unlimited access to reports on more than 1,150 diseases.
		This is the list of diseases currently covered in the Rare Disease Database.
		Search this database for reports on more than 1,150 diseases.
	rarediseases.org /search/rdbdetail_abstract.html?disname=Maple+... (116 words)

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