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Topic: Homocystinuria

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	Homocystinuria - Wikipedia, the free encyclopedia
		Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine.
		It is an inherited autosomal recessive trait, which means the child is to inherit the defective gene from both parents.
		Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
	en.wikipedia.org /wiki/Homocystinuria (249 words)

	MedlinePlus Medical Encyclopedia: Homocystinuria
		Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine.
		Homocystinuria is inherited as an autosomal recessive trait, which means that the child must inherit the defective gene from both parents to be seriously affected.
		Intrauterine diagnosis of homocystinuria is available and is made by culturing amniotic cells or chorionic villi in order to test for the presence or absence of cystathionine synthase (the enzyme that is missing in homocystinuria).
	www.nlm.nih.gov /medlineplus/ency/article/001199.htm (918 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-09)
		Homocystinuria is a metabolic disease where there is a problem breaking down a protein called methionine in the body.
		Homocystinuria is a genetic disease that affects both children and adults.
		This genetic change causes individuals with homocystinuria to be deficient in an enzyme called cystathionine beta synthase, which is important in the breakdown of the amino acid methionine.
	www.madisonsfoundation.org /content/3/1/display.asp?did=272 (782 words)

	Homocystinuria -- Facts, Info, and Encyclopedia article (Site not responding. Last check: 2007-10-09)
		Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the (The organic processes (in a cell or organism) that are necessary for life) metabolism of the (Organic compounds containing an amino group and a carboxylic acid group) amino acid methionine.
		It is inherited an (additional info and facts about autosomal recessive trait) autosomal recessive trait, which means the child is to inherit the defective gene from both parents.
		However, many people are treated to high doses of vitamin B6(also known as (A B vitamin that is essential for metabolism of amino acids and starch) pyridoxine).
	www.absoluteastronomy.com /encyclopedia/h/ho/homocystinuria.htm (323 words)

	Homocystinuria - Genetics Home Reference
		Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly.
		This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities.
		Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria.
	ghr.nlm.nih.gov /condition=homocystinuria (669 words)

	NorthCrest
		Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine (MET).
		Homocystinuria is inherited as an autosomal recessive trait.
		Prenatal diagnosis of homocystinuria is available and is made by culturing amniotic cells or chorionic villi in order to test the presence or absence of cystathionine synthase (the enzyme that is missing in homocystinuria).
	healthlibrary.epnet.com /GetContent.aspx?token=b696f142-edf4-4d7f-a7ba-dc89ceee0ace&chunkiid=11776&siteid=41ff7c6e-df58-11d3-ad19-00508b91a0dd&url=http://www.mrhospital.com (678 words)

	eMedicine - Homocystinuria : Article by Janette Baloghova, MD (Site not responding. Last check: 2007-10-09)
		Background: Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase.
		Homocystinuria can be caused by insufficient vitamin B-12 synthesis resulting from a defect in the remethylation of homocysteine to methionine; methylmalonic aciduria is present.
		Clinical features of homocystinuria, such as ectopia lentis, dolichocephalia, and chest and spinal deformities, are similar to the features found in patients with Marfan syndrome, although the cerebral symptoms, the changes in the hair, and the disorders of mental development are absent in patients with Marfan syndrome.
	www.emedicine.com /derm/topic708.htm (4201 words)

	How do People Get Homocystinuria? (Site not responding. Last check: 2007-10-09)
		Because homocystinuria requires a carrier or recessive gene from each parent, the only way a person with homocystinuria can have an affected child is to have children with a carrier or another person with the disorder.
		Considering that homocystinuria is a relatively rare condition and only first described in 1962, it is too early to be certain about the outcome of pregnancy in women with homocystinuria (Newman & Mitchell, l984).
		When a woman with homocystinuria decides to have a family, it is very important that she sees a metabolic team in the planning stages.
	www.vanhosp.bc.ca /html/wellness_amdc_findout_homocystinuria_how.html (555 words)

	Homocystinuria
		Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine.
		Due to deficiency of the CBS enzyme, infants with Homocystinuria may fail to grow and gain weight at the expected rate (failure to thrive) and have developmental delays.
		Homocystinuria due to deficiency of cystathionine synthase is inherited as an autosomal recessive trait.
	my.webmd.com /hw/health_guide_atoz/nord463.asp (665 words)

	Homocystinuria Screening in Newborns Misses Many Cases
		Levy is senior associate in the departments of medicine and genetics at the Children's Hospital in Boston and an associate professor of pediatrics at Harvard Medical School.
		Homocystinuria is a rare disorder that affects only one out of every 200,000 infants, but if it is not detected early enough it can cause serious complications, including severe mental retardation, osteoporosis, and the formation of clots in blood vessels.
		Homocystinuria, a condition in newborns that can cause mental retardation, is diagnosed by measuring the amount of the amino acid called methionine in the blood.
	www.webmd.com /content/article/20/1728_52277.htm (581 words)

	ORPHAN EUROPE - Homocystinuria (Site not responding. Last check: 2007-10-09)
		Homocystinuria belongs to a group of disorders known as inborn errors of metabolism.
		The term homocystinuria refers to an accumulation of very high levels of the biochemical molecule homocysteine in the blood and urine.
		The other 2 types of homocystinuria also result in raised blood and urine levels of homocysteine, but generally have normal or low blood levels of methionine.
	www.orphan-europe.com /homocystinurie_gb.html (534 words)

	Homocystinuria -- Isherwood 313 (7064): 1025 -- BMJ
		Homocystinuria -- Isherwood 313 (7064): 1025 -- BMJ
		Homocystinuria is due to deficiency of the enzyme cystathionine-ß-synthase,
		Ocular manifestations in the Marfan syndrome and homocystinuria.
	bmj.bmjjournals.com /cgi/content/full/313/7064/1025 (1111 words)

	Manbir Online ... Homocystinuria
		In homocystinuria there is impaired conversion of homocysteine to methionine, The sulfur atom of the essential amino acid methionine is transferred ultimately to cysteine by the transsulfuration pathway.
		Homocysteine and methionine accumulate in cells and body fluids; cysteine synthesis is impaired, resulting in reduced concentrations of this amino acid and its disulfide form cystine.
		Homocystinuria is relatively common in Ireland (1 in 60,000 births) but rare elsewhere (less than 1 in 200,000 births).
	www.manbir-online.com /htm2/homocyctin.htm (149 words)

	Homocystinuria Management (Site not responding. Last check: 2007-10-09)
		In homocystinuria, however, inactivity of CBS prevents homocysteine from transsulfuration to cystathionine and diverts it via remethylation to methionine.
		The clinical consequences of homocystinuria are multiple and severe, including dislocation of the ocular lenses (ectopia lentis), mental retardation, skeletal abnormalities, and thromoboembolic events (1).
		When homocystinuria is diagnosed in later childhood or at an older age, complications have probably already appeared.
	www.meadjohnson.com /metabolics/homocystinuria.html (2130 words)

	Newborn Screening Program - Homocystinuria
		Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine.
		Homocystinuria has an estimated incidence of approximately one in 300,000 births.
		As an autosomal recessive disorder, the parents of a child with HCU are unaffected, healthy carriers of the condition, and have one normal gene and one abnormal gene.
	www.idph.state.il.us /HealthWellness/fs/homocystinuria.htm (581 words)

	eMedicine - Metabolic Disease & Stroke: Homocystinuria/Homocysteinemia : Article by Pitchaiah Mandava, MD, PhD (Site not responding. Last check: 2007-10-09)
		Homocystinuria is an autosomal recessively inherited defect in the transsulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III).
		If homocystinuria is suspected on the basis of history, physical examination, and family history, the patient may be transferred to a tertiary care center, where expertise in a variety of relevant fields is more likely to be available.
		Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries.
	www.emedicine.com /neuro/topic578.htm (2938 words)

	Homocystinuria General Overview
		Homocystinuria is a treatable disorder that affects the way the body processes protein.
		Some people with homocystinuria are treated slightly differently than others because they respond to treatment with a specific vitamin.
		In a child with homocystinuria, methionine cannot be converted to cysteine because one of the needed enzymes does not work properly.
	www.doh.wa.gov /ehsphl/phl/newborn/homocysgo.htm (449 words)

	INTRODUCTION
		Homocystinuria is an inborn error of methonine metabolism and was discovered in 1962 independently in Northern Ireland by Carson and Neill and in the United States by Gerritsen et al.
		Homocystinuria (HCU), is a particular type of metabolic disorder similar to Phenylketonuria (PKU), Methylmalonic Acidemia(MMA) and Tyrosinemia.
		This leads to accumulation of Homocyst(e)ine, which is toxic, and deficiency of Cyst(e)ine, which is an essential amino acid in Homocystinuria patients.
	www.hcusupport.com /Introduction.htm (478 words)

	SAUDI EXPERIENCE WITH CLASSIC HOMOCYSTINURIA
		Classic homocystinuria among the Saudi population is reviewed along with radiological and neurophysiological findings.
		The clinical and laboratory files of 24 patients who were diagnosed to have classic homocystinuria were studied retrospectively.
		Homocystinuria as affected by pyridoxine, folic acid and vitamin B
	www.kfshrc.edu.sa /annals/183/97-298.html (1946 words)

	Homocystinuria, Eastern Carolina (Site not responding. Last check: 2007-10-09)
		Infants born with homocystinuria may fail to grow and gain weight (failure to thrive) and may experience developmental delays.
		People with homocystinuria may develop vascular disease at a young age.
		Treatment for homocystinuria may include eating foods low in certain amino acids and taking vitamin supplements and a medication (called betaine) to enhance the breakdown of homocysteine.
	www.uhseast.com /132014.cfm (273 words)

	Disorders (Site not responding. Last check: 2007-10-09)
		Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine.
		Homocystinuria only emerges when two carriers of the defective gene have children together and pass both defective genes (one from each parent) to their offspring.
		There is a 25% chance with each pregnancy that the child will be born with the disease and a 50% chance of them being a carrier of the defective gene.
	www.pku-allieddisorders.org /allieddisorders.htm (1704 words)

	Vitaflo International - HCU Homocystinuria
		Classical Homocystinuria (HCU) is a rare inborn error of methionine metabolism caused by a deficiency of cystathionine-ß-synthase (CBS).
		This enzyme is involved in the transsulfuration of homocysteine to cysteine and lack of CBS results in an increased plasma concentration of homocysteine, methionine and other sulphur containing metabolites and in low levels of plasma cysteine, cystathionine and serine.
		Due to the rarity of this condition there is a very limited choice of dietary products available to treat HCU.
	www.vitaflo.co.uk /homocystinuria.php (347 words)

	Homocystinuria (Site not responding. Last check: 2007-10-09)
		Homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food (metabolism).
		This enzyme deficiency may cause a buildup of homocysteine in the blood.
		People with homocystinuria may have a thin appearance, with long, slender arms, legs, fingers, and toes.
	www.meritcare.com /hwdb/_followLink.asp?sgml_id=tu2113-sec (207 words)

	HOMOCYSTINURIA SUPPORT
		I was diagnosed at the age of 2 that I had a condition called Homocystinuria, which is due to the absence of an enzyme in my body.
		Some basic information about what kinds of food Homocystinuria patients can eat is given in diet section.
		In my newsletter I will be explaining my recent activities, upcoming conferences, workshops, and other events related to Homocystinuria.
	www.hcusupport.com (301 words)

	NEJM -- Coexistence of Hereditary Homocystinuria and Factor V Leiden -- Effect on Thrombosis
		of 11 patients with homocystinuria (age, 0.2 to 8 years).
		Thrombophilia, Homocystinuria, and Mutation of the Factor V Gene
		D'Angelo, A., Fermo, I., D'Angelo, S. V., Quere, I., Lamarti, H., Chadefaux-Vekemans, B., Mandel, H., Brenner, B., Berant, M. Thrombophilia, Homocystinuria, and Mutation of the Factor V Gene.
	content.nejm.org /cgi/content/abstract/334/12/763 (1165 words)

	homocystinuria - OneLook Dictionary Search
		We found 7 dictionaries with English definitions that include the word homocystinuria:
		Tip: Click on the first link on a line below to go directly to a page where "homocystinuria" is defined.
		homocystinuria : Collaborative Hypertext of Radiology [home, info]
	www.onelook.com /?w=homocystinuria&ls=a (103 words)

	homocystinuria - OneLook Dictionary Search
		homocystinuria : Stedman's Online Medical Dictionary, 27th Edition [home, info]
		homocystinuria : Dorland's Illustrated Medical Dictionary [home, info]
		Homocystinuria : MEDLINE plus Illustrated Medical Encyclopedia [home, info]
	www.onelook.com /?w=homocystinuria&ls=a (103 words)

	Homocystinuria
		Homocystinuria National Coalition for PKU and Allied Disorders
		DISCLAIMER: NOAH is an information guide only and cannot answer personal health-related or research questions.
		All medical information needs to be carefully reviewed with your health care provider.
	www.noah-health.org /en/genetic/conditions/homocyst.html (84 words)

	Homocystinuria definition - Medical Dictionary definitions of popular medical terms
		Homocystinuria definition - Medical Dictionary definitions of popular medical terms
		Homocystinuria: A genetic disease due to an enzyme deficiency.
		The finding of vascular disease and premature arteriosclerosis in persons with homocystinuria led to the theory that homocystine may be a factor in heart disease.
	www.medterms.com /script/main/art.asp?articlekey=3776 (202 words)

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