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| | eMedicine - Metabolic Disease & Stroke: Homocystinuria/Homocysteinemia : Article by Pitchaiah Mandava, MD, PhD |
 | | 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. | | | Genetic counseling should be offered to the patient and the family on confirmation of homocystinuria. |
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http://www.emedicine.com/neuro/topic578.htm
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| | Homocystinuria Screening in Newborns Misses Many Cases |
| | That is absolutely not true." He adds that if the child who has been tested is experiencing problems possibly connected with homocystinuria, the child should be tested again since the condition may have been missed the first time. | | | Even if the cutoff value is reduced, not all infants with homocystinuria will be identified, warn Peterschmitt and colleagues. | | | They write that probably more than one in five affected infants will be missed. |
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http://www.webmd.com/content/article/20/1728_52277.htm
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| | Homocystinuria Management |
| | Approximately 50% of individuals with homocystinuria show some degree of pyridoxine responsiveness, and about 13% can be completely controlled with pyridoxine alone (1). | | | The goal of nutritional therapy is to provide sufficient methionine to promote normal growth and development, but not so much as to allow the accumulation of homocyst(e)ine or its dimer homocysteine-cysteine (also called mixed disulfides). | | | Before dietary therapy is initiated in these individuals, responsiveness to pyridoxine should be determined. |
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http://www.meadjohnson.com/metabolics/homocystinuria.html
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| | Homocystinuria General Overview |
| | For more information about this, contact your health care provider or a genetic counselor. | | | If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Clinical Description and Related Links pages or contact us with your specific question. | | | People with homocystinuria require specialized treatment through a clinic with experience in treating this disorder. |
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http://www.doh.wa.gov/ehsphl/phl/newborn/homocysgo.htm
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| | Homocystinuria |
| | All medical information needs to be carefully reviewed with your health care provider. | | | DISCLAIMER: NOAH is an information guide only and cannot answer personal health-related or research questions. | | | NOAH > Genetic Diseases > Specific Conditions > Homocystinuria |
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http://www.noah-health.org/en/genetic/conditions/homocyst.html
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| | Homocystinuria -- Isherwood 313 (7064): 1025 -- BMJ |
| | The natural history of homocystinuria due to cystathionine-(beta)-synthase deficiency. | | | Ectopia lentis is present in 85 % of patients with homocystinuria, | | | A successful pregnancy in a patient with homocystinuria and a previous near-fatal postpartum cavernous sinus thrombosis. |
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http://bmj.bmjjournals.com/cgi/content/full/313/7064/1025
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| | Rare Pediatric Disease Database |
| | A physical examination may reveal a tall, thin build with a deformed chest and curved spine. | | | The prognosis for individuals with homocystinuria is variable depending on what symptoms they have. | | | Other treatment will depend on what symptoms the affected individual has. |
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http://www.madisonsfoundation.org/content/3/1/display.asp?did=272
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| | Newborn Screening Program - Homocystinuria |
| | Homocystinuria has an estimated incidence of approximately one in 300,000 births. | | | Osteoporosis and predisposition to thromboembolism may be complications of the disorder. | | | Parents should understand that treatment is lifelong and that compliance with dietary management and medications are imperative to the child's health, growth and development. |
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http://www.idph.state.il.us/HealthWellness/fs/homocystinuria.htm
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| | ORPHAN EUROPE - Homocystinuria |
| | Metabolism is a collective name comprising all biochemical actions taking place in the human body. | | | This latter group can be treated with a special diet and/or medication to control their condition. | | | Early recognition and diagnosis is important, as clinical manifestations of the disease can be prevented with appropriate treatment. |
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http://www.orphan-europe.com/homocystinurie_gb.html
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| | Vitaflo International - HCU Homocystinuria |
| | Due to the rarity of this condition there is a very limited choice of dietary products available to treat HCU. | | | Vitaflo have developed a range of protein substitutes for patients with homocystinuria: | | | 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. |
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http://www.vitaflo.co.uk/homocystinuria.php
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| | MedlinePlus Medical Encyclopedia: Homocystinuria |
| | Calling your health care provider Return to top | | | The condition can also increase the risk for psychiatric disorders. | | | Medication and diet should be closely supervised by a physician with experience treating homocystinuria. |
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http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm
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| | HOMOCYSTINURIA SUPPORT |
| | The introduction gives basic details on what Homocystinuria is about. | | | 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. |
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http://www.hcusupport.com
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| | Homocystinuria - Wikipedia, the free encyclopedia |
| | The life expectancy of patients with homocystinuria is reduced. | | | 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. | | | No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). |
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http://en.wikipedia.org/wiki/Homocystinuria
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| | SAUDI EXPERIENCE WITH CLASSIC HOMOCYSTINURIA |
| | ESI-MS/MS analysis of urine from a homocystinuria patient and from a control. | | | The clinical and laboratory files of 24 patients who were diagnosed to have classic homocystinuria were studied retrospectively. | | | Smolin LA, Benevenga NJ, Berlow S. The use of betaine for the treatment of homocystinuria. |
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http://www.kfshrc.edu.sa/annals/183/97-298.html
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| | How do People Get Homocystinuria? |
| | 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. | | | In some families, there may be only one child with homocystinuria, while in other families, multiple children may be affected. | | | 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). |
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http://www.vanhosp.bc.ca/html/wellness_amdc_findout_homocystinuria_how.html
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| | Homocystinuria, Eastern Carolina |
| | Homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food (metabolism). | | | 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. | | | People with homocystinuria may develop vascular disease at a young age. |
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http://www.uhseast.com/132014.cfm
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| | Homocystinuria - Genetics Home Reference |
| | The most common form of the condition is caused by the lack of an enzyme called cystathionine beta-synthase. | | | These disorders can cause mental retardation, seizures, problems with movement, and a blood disorder called megaloblastic anemia. | | | Homocystinuria caused by cystathionine beta-synthase deficiency affects at least 1 in 200,000 to 335,000 people worldwide. |
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http://ghr.nlm.nih.gov/condition=homocystinuria
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| | INTRODUCTION |
| | 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. | | | D.E.L. Wilcken and B, Wilcken, The Natural history of vascular disease in Homocystinuria and the effects of treatment, J. Inherited Metabolic Disorder, 20 (1997) 295 - 300. |
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http://www.hcusupport.com/Introduction.htm
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| | Homocystinuria |
| | Homocystinuria (HOMO-SISTIN-UREA) is a genetic disorder that affects how protein is broken down in the body. | | | About one out of 200,000 babies are born with homocystinuria each year in Canada. |
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http://www.vanhosp.bc.ca/html/wellness_amdc_findout_homocystinuria.html
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| | Homocystinuria |
| | Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. | | | In addition, in those with the disorder, blood clots may tend to develop or become lodged within certain large and small blood vessels (thromboembolisms), potentially leading to life-threatening complications. | | | The condition may result from deficiency of any of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid (cysteine)--or, less commonly, impaired conversion of the compound homocysteine to methionine. |
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http://www.bchealthguide.org/kbase/nord/nord463.htm
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| | Homocystinuria definition - Medical Dictionary definitions of popular medical terms |
| | 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. | | | Homocystinuria definition - Medical Dictionary definitions of popular medical terms | | | Homocystinuria: A genetic disease due to an enzyme deficiency. |
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http://www.medterms.com/script/main/art.asp?articlekey=3776
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| | Manbir Online ... Homocystinuria |
| | Homocystinuria is relatively common in Ireland (1 in 60,000 births) but rare elsewhere (less than 1 in 200,000 births). | | | 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. |
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http://www.manbir-online.com/htm2/homocyctin.htm
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| | Disorders |
| | Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain 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. | | | Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications. |
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http://www.pku-allieddisorders.org/allieddisorders.htm
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| | homocystinuria - OneLook Dictionary Search |
| | homocystinuria : The On-line Medical Dictionary [home, info] | | | homocystinuria : Dorland's Illustrated Medical Dictionary [home, info] | | | We found 7 dictionaries with English definitions that include the word homocystinuria: |
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http://www.onelook.com/?w=homocystinuria&ls=a
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