21. Entrez PubMed Click here to read The molecular basis of cystathionine betasynthase deficiency in Dutch patients with homocystinuria effect of CBS genotype on biochemical http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

22. What Is Homocystinuria? What is homocystinuria? homocystinuria (HOMOSISTIN-UREA) is a genetic disorder that affects how protein is broken down in the body. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_homocystinuria_whatis.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Homocystinuria What is Homocystinuria? How do People Get Homocystinuria? How is Homocystinuria Treated? How can Friends and Family Help? Resources ... References What is Homocystinuria? Homocystinuria (HOMO-SISTIN-UREA) is a genetic disorder that affects how protein is broken down in the body. It is therefore called a nutritional or metabolic disorder. About one out of 200,000 babies are born with homocystinuria each year in Canada. Homocystinuria can be treated with drugs, with diet or with a combination of both. One of the drugs used is pyridoxine or vitamin B6 . About half the people affected by homocystinuria are very responsive to vitamin B6 and do not need any other special treatment. These people are said to be " pyridoxine responsive ." There are 2 other groups of people with homocystinuria: those who partly respond to pyridoxine, and those who have no response to pyridoxine. Both these groups of people will need to take other medications and follow a special diet. Amino acids are the building blocks of protein. Of the 20 amino acids found in body protein, 8 cannot be made by adults and must be obtained from foods. These are considered

23. How Is Homocystinuria Treated? How is homocystinuria Treated? The treatment for homocystinuria is aimed at prevention. The type of homocystinuria determines the treatment. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_homocystinuria_treated.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Homocystinuria ... How do People Get Homocystinuria? How is Homocystinuria Treated? How can Friends and Family Help? Resources References How is Homocystinuria Treated? The treatment for homocystinuria is aimed at prevention. Therapy needs to begin before complications occur because, once they develop, they are irreversible. Treatment must be started as soon as the disorder is diagnosed. The type of homocystinuria determines the treatment. The following approaches are used alone or in combination. Medication Pyridoxine (vitamin B6) Pyridoxine or vitamin B6 is a natural substance found in the body. It helps to change homocysteine into cysteine. Some people with homocystinuria respond well to vitamin B6 supplements. This can be determined by a blood test that measures the homocysteine level after a trial of vitamin B6. Vitamin B6 is taken by mouth in pill form and is available at health food and drug stores. Vitamin B12 Vitamin B12 is also a natural substance found in the body. It helps to change the excess homocysteine back into methionine. Vitamin B12 is taken by mouth in pill form and is available at health food and drug stores. Folic acid Folic acid is another natural substance found in the body. It helps vitamin B12 to change homocysteine back into methionine. It is also taken in pill form and available at health food and drug stores.

24. Homocystinuria - Information / Diagnosis / Treatment / Prevention home neurological disorders brain diseases metabolic homocystinuria homocystinuria. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/neurological-disorders/brain-diseases/metabolic/

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... metabolic > homocystinuria Homocystinuria Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Musculoskeletal Disorders/Connective Tissue Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "homocystinuria" Health News: Search millions of published articles for news on Homocystinuria Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Drkoop: Medical Encyclopedia: Homocystinuria An in depth look at this disorder, including a definition, the causes and risk factors, symptoms, prevention, complications, prognosis, diagnosis and treatment. Homocystinuria An article about disorder, as to what it is, the symptoms, how it is inherited and the newborn screening program.

25. Homocystinuria Management homocystinuria Background Although increased methionine is often the first indicator of homocystinuria, the toxic metabolite is homocysteine. http://www.meadjohnson.com/metabolics/homocystinuria.html

Homocystinuria: Background Harvey Levy, M.D. Metabolic Clinic (Genetic Service), Children’s Hospital, Boston, MA Although there are several metabolic disorders in which homocystine is secreted in the urine, the major of these disorders, referred to as homocystinuria (or HCU), is due to cystathionine ß-synthase (CBS) deficiency. CBS is an enzyme involved at the branching point between transsufuration and remethylation in methionine degradation. Normally at this point, most homocysteine is converted to cystathionine and much less is remethylated back to methionine. In homocystinuria, however, inactivity of CBS prevents homocysteine from transsulfuration to cystathionine and diverts it via remethylation to methionine. Consequently, the following biochemical abnormalities occur: Increased methionine Increased homocysteine Increased homocystine (homocysteine—homocysteine) Increased mixed disulfide (homocysteine—cysteine) Decreased cystine (cysteine—cysteine) Although increased methionine is often the first indicator of homocystinuria, the toxic metabolite is homocysteine. It is not entirely known how accumulated homocysteine produces damage; the predominant concept is that it binds to cysteine residues of tissue proteins and prevents the formation of cysteine-cysteine disulfide bonding within the protein, which is critical for proper protein folding and conformation. 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).

26. HOMOCYSTINURIA Features Listed For homocystinuria. McKusick 236200. Advanced bone age/large epiphyses; Aminoaciduria; Arachnodactyly; Blood vessels, general abnormalities; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?791

27. Homocystinuria homocystinuria, Book, Home Page. http://www.fpnotebook.com/END92.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Homocystinuria Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Homocysteine Inborn Error of Small Molecule Metabolism Inborn Errors of Metabolism Pathophysiology Inherited enzyme deficiency Effects Intimal fibrosis and Fiber destruction Destroys arterial elastic fibers Destroys Zonular fibers of the lens Fatty Liver infiltration Gliosis and focal necrosis of the midbrain Etiology Cyst athionine B-synthase deficiency

28. AllRefer Health - Homocystinuria (Cystathionine Beta Synthase Deficiency) homocystinuria (Cystathionine Beta Synthase Deficiency) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors http://health.allrefer.com/health/homocystinuria-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Homocystinuria Homocystinuria Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Cystathionine Beta Synthase Deficiency Definition Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Pectus Excavatum 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. Usual findings in homocystinuria are nearsightedness dislocation of the lens of the eye, and a tendency to develop blood clots in the veins and arteries.

29. AllRefer Health - Homocystinuria Prevention (Cystathionine Beta Synthase Deficie homocystinuria (Cystathionine Beta Synthase Deficiency) information center covers Prevention. Prevention of homocystinuria. homocystinuria. http://health.allrefer.com/health/homocystinuria-prevention.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Homocystinuria : Prevention of Homocystinuria Homocystinuria Definition Prevention Treatment Expectations or Prognosis Complications Calling Your Health Care Provider ... Go To Main Page Alternate Names : Cystathionine Beta Synthase Deficiency Homocystinuria Prevention Genetic counseling is recommended for prospective parents with a family history of homocystinuria. 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). Previous Top Next Jump to another section Definition Homocystinuria Prevention Homocystinuria Treatment Homocystinuria Prognosis Homocystinuria Complications Calling Your Health Care Provider Topics that might be of interest to you Blood Clots Cataract Failure to Thrive Glaucoma ... X-Ray Other Topics Arachnodactyly Autosomal Recessive Dislocation Enzyme ... Vitamin B6 Review Date : 11/8/2002 Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

30. Homocystinuria Facts homocystinuria Primary Defect Deficiency or absence of an enzyme necessary for the breakdown of the amino acid methionine results in build up of methionine in http://www.doh.wa.gov/EHSPHL/PHL/Newborn/homocystinuria.htm

You are here: DOH Home EHSPHL Home PHL Home NBS Home ... Employees Homocystinuria Primary Defect Deficiency or absence of an enzyme necessary for the breakdown of the amino acid methionine results in build up of methionine in the blood and elevated excretion of homocystine in the urine. Screening Test Historically screening has been based on measurement of methionine in the dried blood spot using a bacterial inhibition assay similar to the original Guthrie assay for PKU. Screening is now possible using tandem mass spectrometry (MS/MS). Predictive value should be high. Because of delayed accumulation of methionine if residual enzyme activity is present, screening may be more effective at 2 to 4 weeks of age for these infants. Genetic, autosomal recessive. A number of specific genetic defects have been identified. With some, residual enzyme activity may occur, resulting in moderation of symptoms and delay in accumulation of elevated levels of methionine. Prevalence estimates vary between 1 in 80,000 to 1 in 500,000. Possibly due to variation in sensitivity of the screening tests with age. If Untreated There is wide variation in clinical course for affected infants. Clinical features include: circulatory blood clotting (thromoembolism), physical and mental developmental disabilities. Approximately half die by age 25 due to thromboembolism. Developmental delay and physical defects affect most. The most common defect (cystathionine b-synthase deficiency) can be classified as either responsive or non-responsive to treatment with vitamin B6. This may be related to residual enzyme activity needed for response. Those who are not responsive have more severe clinical course.

31. Homocystinuria homocystinuria Important It is possible that the main title of the report homocystinuria is not the name you expected. Please check http://my.webmd.com/hw/health_guide_atoz/nord463.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Homocystinuria Important It is possible that the main title of the report Homocystinuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms None Disorder Subdivisions None General Discussion Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. 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. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. Homocystinuria due to deficiency of cystathionine synthase is inherited as an autosomal recessive trait. The disorder results from changes (mutations) of a gene on the long arm (q) of chromosome 21 (21q22.3) that regulates the production of the CBS enzyme.

32. Homocystinuria - Medical Dictionary Definitions Of Popular Medical Terms homocystinuria A genetic disease due to an enzyme deficiency. Among other events, there is a buildup of the amino acid homocystine. http://www.medterms.com/script/main/art.asp?articlekey=3776

33. Homocystinuria homocystinuria,. Print this article, Many patients with homocystinuria have skeletal abnormalities resembling those of Marfans syndrome. http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/HOMOCYSTINURIA

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Homocystinuria, a group of disorders characterized by inborn errors in methionine metabolism and presence of excessive homocystine in body fluids. Three different autosomal recessive genetic enzymatic defects have been described, all of which lead to neurologic, ocular and skeletal abnormalities and premature occlusive vascular disease. The most frequent physical finding is bilateral lens dislocations. Spontaneous venous and arterial thromboses are the main cause of morbidity. Venous thromboses frequently involve the mesenteric vessels, vena cava, iliac vessels and pulmonary veins. Many patients with homocystinuria have skeletal abnormalities resembling those of Marfans syndrome . Patients are tall and have disproportionately long extremities, scoliosis, pectus excavatum and joint laxity. On radiographs, changes in the skull include enlargement of the sinuses, widening of the diploic space, extensive dural calcification and prognathism. In the spine, an increased anteroposterior diameter, posterior scalloping, and biconcavity of the vertebral bodies may be present, and scoliosis and compression fractures may also be seen ( Fig.1

34. Homocystinuria homocystinuria,. Print this article, There are three types of homocystinuria each affecting a defect at a different step in the enzymatic pathway. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/HOMOCYSTINURIA.A

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Homocystinuria, metabolic disorder usually inherited as an autosomal recessive trait involving a congenital enzyme defect, cystathionine beta synthase. The resultant abnormal accumulation of homocysteine is converted to homocystine resulting in increased levels of homocystine in blood and urine. There are three types of homocystinuria each affecting a defect at a different step in the enzymatic pathway. Patients with type I homocystinuria often have mental retardation, are tall with long limbs, have inferior displacement of the lens and venous and arterial thromboembolic episodes. Radiographs show generalized osteoporosis with frequent pathological fractures and biconcavity of vertebral bodies, and enlarged carpal bones. They may also show arachnodactyly and scoliosis and pectus deformities. The skeletal changes and thrombotic episodes are absent in patients with type II or III homocystinuria. GL The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

35. HEalth Professionals Guide To Newborn Screeing: Homocystinuria homocystinuria. Treatment The treatment for homocystinuria is the dietary restriction of methionine as well as large doses of vitamin B6 and betaine. http://www.slh.wisc.edu/newborn/guide/homocystinuria.php

WSLH Newborn Guide Homocystinuria ... Advisory Committee Health Professionals Guide to Newborn Screening: Newborn Screeing Disorders Homocystinuria Autosomal recessive amino acid disorder caused primarily by a deficiency in cystathionine synthetase enzyme activity causing the build up of the amino acid methionine in the blood. Early detection and treatment is can prevent associated mental retardation, seizures, motor development delays, weakening of bones, and venous and arterial blood clots. Prevalence (WI): 1:200,000 (general population) Analyte Measured: Methionine Reporting Ranges: Feeding Effect: None Timing Effect: 24 hours of age: Results are valid Confirmation: Immediate consult with a metabolic specialist at one of the states two metabolic treatment centers. Treatment: The treatment for homocystinuria is the dietary restriction of methionine as well as large doses of vitamin B6 and betaine.

36. Homocystinuria homocystinuria. homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food (metabolism). http://www.meritcare.com/hwdb/_followLink.asp?sgml_id=tu2113

37. Homocystinuria homocystinuria. None. General Discussion. homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord463

38. Homocystinuria homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. homocystinuria. http://www.bchealthguide.org/kbase/nord/nord463.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord463"; var hwDocTitle="Homocystinuria"; var hwRank="1"; var hwSectionHWID="nord463"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Homocystinuria Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms None Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Cystathioninuria Marfan Syndrome General Discussion Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. 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. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. Homocystinuria due to deficiency of cystathionine synthase is inherited as an autosomal recessive trait. The disorder results from changes (mutations) of a gene on the long arm (q) of chromosome 21 (21q22.3) that regulates the production of the CBS enzyme.

39. ORPHAN EUROPE - Homocystinuria What is homocystinuria ? homocystinuria belongs to a group of disorders known as inborn errors of metabolism. Metabolism is a collective http://www.orphan-europe.com/homocystinurie_gb.html

your country: D GB F E I PL S SF DK N print page email page search Homepage Welcome The Orphan drug legislations Background Who are we? ... Congenital Sucrase-Isomaltase Deficiency Orphan Europe (UK) Ltd. Patient organisations Contact What is homocystinuria ? Homocystinuria belongs to a group of disorders known as inborn errors of metabolism. Metabolism is a collective name comprising all biochemical actions taking place in the human body. There are many metabolic diseases which present with different features depending on which biochemical pathway is affected. The term homocystinuria refers to an accumulation of very high levels of the biochemical molecule homocysteine in the blood and urine. Homocysteine is an amino acid derived from methionine (another amino acid). Amino acids are the building blocks of proteins, which are present in food (e.g. meat, fish, milk, cheese, eggs), but which are also major constituents of all cells in the human body. People suffering from homocystinuria cannot efficiently remove homocysteine from the blood. This is due to a deficiency of one of a number of enzymes responsible for converting homocysteine to a less toxic molecule. Homocysteine therefore builds up, and reaches abnormally high levels in blood and urine. There are 3 different types of homocystinuria, each depending on which particular enzyme is affected:

40. Editing Homocystinuria - Edit - Wikipedia, The Free Encyclopedia Newborn Screening Program homocystinuriahomocystinuria. Definition. homocystinuria Diagnosis. In Illinois, newborn screening for homocystinuria is performed using tandem mass spectrometry. http://en.wikipedia.org/w/wiki.phtml?title=Homocystinuria&action=edit

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