61. Homocystinuria homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine 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 XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library 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.

62. Delay In Diagnosis Of Homocystinuria -- Champion Et Al. 314 (7077): 369 -- BMJ A closer look at the eye in homocystinuria; a screened population. The natural history of homocystinuria due to cystathionineß-synthase deficiency. http://bmj.bmjjournals.com/cgi/content/full/314/7077/369/a

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Extract Respond to this article Alert me when this article is cited Alert me when responses are posted ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Alert me to new issues of the journal Download to citation manager PubMed Articles by Champion, M. P Articles by Bradley, D. BMJ Letters Delay in diagnosis of homocystinuria Neonatal screening avoids complications of delayed treatment delay in diagnosis in patients with homocystinuria, describing a mean interval of 11 years from the onset of major signs until diagnosis. Early detection reduces the development of ocular complications. This is not achieved by good biochemical control alone, lens dislocation still developing in children when treatment is started outside the neonatal period. Neonatal screening affords the opportunity to improve outcome in homocystinuria, avoiding the complications that occur with

63. Homocystinuria -- Isherwood 313 (7064): 1025 -- BMJ Although homocystinuria was described in 19621 and the ocular features were Ectopia lentis is present in 85 % of patients with homocystinuria,6 while as http://bmj.bmjjournals.com/cgi/content/full/313/7064/1025

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Extract Respond to this article Alert me when this article is cited Alert me when responses are posted ... View citation map Services Email this article to a friend Find similar articles in BMJ Find similar articles in PubMed Alert me to new issues of the journal ... Read articles citing this article PubMed PubMed Citation Articles by Isherwood, D. M BMJ Editorials Homocystinuria Early diagnosis and intervention reduces risk of visual impairment and thromboembolism Although homocystinuria was described in 1962 and the ocular features were well characterised in 1973, reports from different parts of the world suggest that the diagnosis is sometimes missed or delayed. In this week's BMJ, Cruysberg et al (p 1037) present data on 34 patients with homocystinuria in whom the mean delay in diagnosis was 11 years. Myopia was an early clinical sign in many patients, while some patients were diagnosed later because of subluxation of the lens (ectopia lentis), which may

64. Homocystinuria - Children's Hospital Boston Home homocystinuria. Flower homocystinuria. Programs that treat this condition or perform this procedure. Metabolism Program. Unfortunately, at this time, http://www.childrenshospital.org/az/Site1049/mainpageS1049P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home Homocystinuria Homocystinuria Programs that treat this condition or perform this procedure Metabolism Program Unfortunately, at this time, we are not able to provide information about this condition or procedure. However, we will be frequently adding and updating information in Child Health A to Z. So please bookmark this site and visit us again soon. Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School Contact Us Privacy Accessibility Give Now Children's Hospital Boston 300 Longwood Avenue Boston MA 02115

65. Diet & Nutrition Center - HeartCenterOnline: 12.31.13.113/library/healthguide/enus/support/top homocystinuria life quote Resources from Life Insurance .Nethomocystinuria life quote Life Insurance resources and quotes from local agents on whole and term life insurance policies. Insurance education, calculators http://www.heartcenteronline.com/myheartdr/common/gotoWhere.cfm?topicID=1469

66. Homocystinuria Life Insurance Resources From Life Insurance .Net homocystinuria life insurance Life Insurance resources and quotes from local agents on whole and term life insurance policies. http://www.lifeinsurance.net/LifeInsurance/Homocystinuria__life_insurance.htm

Home Site Map Education Resources Life Insurance Articles Insurance Carriers State Regulators Related Links ... Contact Us Homocystinuria life insurance Life insurance policies are uniquely tailored to your actual life situation. Your specific health conditions will affect how various companies price your policy or even whether they will take you. Don't let a cookie cutter agency take you to the wrong company. We understand your situation and can get you a great solution your insurance needs. Your need for life insurance can change over a lifetime. At any age, you should consider your individual circumstances and the standard of living you wish to maintain for your dependents. In most cases, you need life insurance only if someone depends on you for support. Your life insurance premium is based on the type of insurance you buy, the amount you buy and your chance of death while the policy is in effect. Life Insurance.Net features hundreds of independent insurance agents, providing accurate term life quotes and universal life quotes from hundreds of top insurance carriers. Quick Fact: Exclusion - Certain causes and conditions, listed in the policy, which are not covered.

67. Georgia Division Of Public Health homocystinuria is an autosomal recessive metabolic disorder resulting from the homocystinuria is detected indirectly by using the bacterial inhibition http://health.state.ga.us/programs/nsmscd/diag_homocys.asp

About Us Health Data Publications Programs ... Calendar Search this Site Powered by Services NSMSCD Program Overview Screening Disorders ... Education Newborn Screening for Metabolic and Sickle Cell Disorders Program Homocystinuria Homocystinuria is an autosomal recessive metabolic disorder resulting from the body's inability to process the amino acids methionine and homocystine. The majority of cases of this condition are due to deficiency of the enzyme cystathionine synthase, which causes an accumulation of methionine, homocysteine and various metabolites of homocystine. Prevalence (GA) 1:350,000 Clinical Features Clinical manifestations vary in degree, type and age of onset. They include diffuse thromboembolism, dislocation of the optic lens, osteoporosis, tall stature due to thin, lengthened long bones, seizures, psychiatric disturbances, and mental retardation. Laboratory Test Homocystinuria is detected indirectly by using the bacterial inhibition assay (the original "Guthrie test"). Elevated levels of methionine stimulate the growth of bacteria around the blood spot. The normal methionine level is <2 mg/dL. Detection depends on sufficient protein ingestion.

68. PharmGKB: Homocystinuria homocystinuria. Alternate Names, Cystathionine beta Synthase Deficiency Disease; Cystathionine betaSynthase Deficiency Disease; Deficiency Disease, http://www.pharmgkb.org/do/serve?objId=PA444487&objCls=Disease

69. Okay I Have A Question About Homocystinuria --The Doctors Lounge(TM) I looked up homocystinuria on the internet to see what it was and how it affected me but it kept homocystinuria is an autosomal recessive disease. http://www.thedoctorslounge.net/endocrinology/forums/backup/topic-2089.html

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Other Specialties Cardiology Chest diseases Dermatology Fertility ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Doctors Lounge Message Archive This is an archived entry for a more up to date version of this post click here! "The information provided on thedoctorslounge.net is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her physician." okay I have a question about homocystinuria Endocrinology Topics Post subject: okay I have a question about homocystinuria - Wed Sep 15, 2004 2:13 am okay here goes when I had my second child she was born premature and I was hospitalized two weeks before the c-section and they had to run a bunch of tests and they never said anything to me but I was going through my daughters discharge summary and it stated that I was carrying 2 gene mutations for homocystinuria but that I had normal homocystine levels so they ran a pku test on her and she was fine. I looked up homocystinuria on the internet to see what it was and how it affected me but it kept saying if you have one mutated gene than you are a carrier and if you have 2 than you have homocystinuria. but I dont have it so what does that mean? how can I have 2 mutated genes and not have homocystinuria? I have no symptoms. please help me I am really freaked out.

70. Homocystinuria Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/HOMOCYSTINURIA.a

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 Corporate Products Financial Services Our Commitment ... Terms of Conditions

71. Homocystinuria Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/HOMOCYSTINURIA

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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

72. Homocystinuria Topic - Unified Search Environment homocystinuria Topic Tree homocystinuria MSH/MH/D006712 MTHICD9/ET/270.4 DXP/DI/U000854 DXP/FI/U001986 CSP/PT/18490835 http://www.use.hcn.com.au/portals/shared/subject.`Homocystinuria`/home.html

Homocystinuria Topic Tree Definition: An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) Synonyms and Source Vocabularies: Homocystinuria cystathionine synthase deficiency Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Albinism Alkaptonuria Aminoaciduria, Renal Homocystinuria ... Steroid Metabolism, Inborn Errors

73. Lysosomal Storage Disease Endocrinology Metabolism homocystinuria. Class Small Molecules, Fructose Intolerance, Galactosemia, Gauchers Disease, homocystinuria, TaySachs http://www.fpnotebook.com/END93.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 Lysosomal storage disease Mucopolysaccharidoses Glycoprotein Metabolism Disorder Sphingolipidosis Mucolipidosis Gangliosidosis Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Practice Management Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory General Metabolism Neurology 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 Inborn Errors of Metabolism Mucopolysaccharidosis Morquio A-B Maroteaux-Lamy Syndrome Beta-glucuronidase deficiency Mucolipidosis Type 2: CNS, Bone and connective tissue involvement

74. Genetics And Major Psychiatric Disorders:A Program For Genetic Counselors homocystinuria. Inheritance. Autosomal recessive. Prevalence. Estimated at 1/50000 to 1/200000. Locus. 21q22.3. Natural History http://www.nchpeg.org/cdrom/homocyst.html

COUNSELING AIDS GENETIC DISORDERS Velocardiofacial Disorder Homocystinuria Inheritance Prevalence Locus Natural History Defining Characteristics Psychiatric Characteristics References Metachromatic Leukodystrophy Copropoporphyria Acute Intermittent Prophyria Wolfram Syndrome Fragile X Syndrome RESEARCH UPDATES RESOURCE LINKS SELF TEST ON CDROM CONTACT US ... OF THE CD Homocystinuria Inheritance: Autosomal recessive Prevalence: Estimated at 1/50,000 to 1/200,000 Locus: Natural History: Homocytinuria is caused by a deficiency in cystathione synthase (classic form), leading to the accumulation of homocysteine in the serum.. This leads to disorders of the connective tissue, muscles, central nervous system, and cardiovascular system. The condition is congenital and complications may occur before the first year of life. Approximately 25% of affected individuals die before 30 years due to thrombotic complications. About 50% of affected individuals are responsive to vitamin B6; course of illness is often more severe in vitamin B6 non-responders. Back to the top Defining Characteristics: Ocular Lens dislocation down and in (typically between 4-10 years), cataracts, atrophy of optic nerve, glaucoma

75. Homocystinuria (Hypermethioninemia) Many patients with homocystinuria have been described since the deficiency was first Osteoporosis is a longterm complication of homocystinuria. Testing http://www.pediatrix.com/body_screening_menu.cfm?id=1576

76. THE MERCK MANUAL--SECOND HOME EDITION, Amino Acid Metabolism In Ch. 282, Heredit Children with homocystinuria are unable to metabolize the amino acid homocysteine, homocystinuria makes the blood more likely to spontaneously clot, http://www.merck.com/mmhe/sec23/ch282/ch282c.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Hereditary Metabolic Disorders Topics Introduction Amino Acid Metabolism Carbohydrate Metabolism Lipid Metabolism Pyruvate Metabolism Amino Acid Metabolism Buy The Book Print This Topic Email This Topic Pronunciations amniocentesis chorionic villus sampling cobalamin cystinuria ... pyruvate metabolism Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing can be the result of defects either in the breakdown of amino acids or in the body's ability to get the amino acids into cells. Because these disorders produce symptoms early in life, newborns are routinely screened for several common ones. In the United States, newborns are commonly screened for phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, and a number of other inherited disorders, although screening varies from state to state.

77. Disease - Homocystinuria - Hartford, Connecticut Disease homocystinuria - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart http://www.saintfranciscare.com/12465.cfm

@import url(main.css); About Us Health Information Health Focus Todays Breast Health News ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Homocystinuria Pectus excavatum Definition: Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine. Alternative Names: Cystathionine beta synthase deficiency Causes And Risk: 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. Newborn infants appear normal, and early symptoms, if present at all, are vague and may occur as mildly delayed development or failure to thrive . Increasing visual problems may lead to diagnosis of this condition when the child, on examination, is discovered to have dislocated lenses and nearsightedness. Some degree of mental retardation is usually seen, but some affected people have normal IQs. When mental retardation is present, it is generally progressive if left untreated. The condition can also increase the risk for psychiatric disorders.

78. Homocystinuria - St. Joseph Mercy, Ann Arbor Michigan homocystinuria St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, Oakland County, http://www.sjmercyhealth.org/19598.cfm

@import url(default.css); Online Health Information Health Information - Frame Back to Health Library Print This Page Email to a Friend Homocystinuria 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. Excess homocysteine may be released in the urine. 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. If homocystinuria is not diagnosed in infancy, other problems may develop, including: Partial dislocation of the lens of the eyes (ectopia lentis). Severe nearsightedness (myopia). Progressive mental retardation. Seizures. Psychiatric problems. Skeletal problems (such as scoliosis osteoporosis , or protrusion or depression of the breastbone). Formation of blood clots in deep veins ( deep venous thrombosis , or DVT).

79. Hill Health Topics A-Z - Homocystinuria homocystinuria. National Organization for Rare Disorders. Important It is possible that the main title of the report homocystinuria is not the name you http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord463&SE

80. BrainTalk Communities - Homocystinuria Online patient support groups for healthcare and neurology. http://brain.hastypastry.net/forums/archive/index.php/t-33382.html

BrainTalk Communities Specific Neurological Conditions (M - Z) Marfan Syndrome PDA View Full Version : homocystinuria svaneck 08-20-2004, 08:38 AM Hi Im Sharom and I suffer from homocystinuria, it mimic's marfan syndrome and I have been diagnosed with it also, does anyone else suffer from this I need to talk Thank You Sharon Irish 08-20-2004, 10:48 AM Hello Sharom I want to let you know that I have seen your post. I am doing a bit of family follow up on Marfan. I think that my cousins were first diagnosed with tour complaint. I don't know why but they were told that it is possiblle that they have it but they definitely have Marfan. Their first problem was with the eyes and later discovered that they have a lot of circulation problems. Is it your eyes? or am I totally wrong. Teresa svaneck 08-25-2004, 09:46 AM hi yes I am very near sited 20/400 both eyes and I look like a typical marfans patient, but with the homocystinuria, I also subsebtable to blood clot's etc Sharon :eek: Irish 08-26-2004, 03:36 AM Hi Sharon.

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