61. KC Fellow Marshall L. Summar, PhD Honors CoChair, Consensus Conference on Treatment of urea cycle disorders, Washington,DC, April 2000. Recent Presentations. Summar, ML (2001, September). http://www.vanderbilt.edu/kennedy/people/summar.html

Marshall L. Summar, PhD Associate Professor of Pediatrics and Molecular Physiology and Biophysics Director of Biochemical Disorders Diagnostic Laboratory Kennedy Center Fellow Phone: (615) 322-7601; Fax: (615) 343-9951 Mailing Address: DD-2205 Medical Center North (37232-2578) e-mail address: marshall.summar@mcmail.vanderbilt.edu Research Interests: Metabolic disorders that perturb Central Nervous System development and functions. Primary focus is on hepatic urea cycle enzyme carbamyl phosphate synthetase (CPSI), determining the message sequence of this gene and its genomic structure. Projects and Funding Agenciess NIH R01 Award, Environmental Gene Project, National Institutes of Health, 1999-2002 Honors Co-Chair, Consensus Conference on Treatment of Urea Cycle Disorders, Washington, DC, April 2000. Recent Presentations Summar, M. L. (2001, September). Workup of metabolic disease in the newborn . Neonatology review course, Charleston, SC. Summar, M. L., (2000, October). Urea cycle: Its metabolites and its defects . American Society of Human Genetics Meeting, Philadelphia.

62. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Sites. National urea cycle disorders Foundation Information about theorganization as well as the disease. Family support, membership http://www.1uphealth.com/links/genetic-disorders-urea-cycle.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Urea Cycle Description Sites National Urea Cycle Disorders Foundation Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information. Urea Cycle Disorders Information, medical links and a message board. The true story of a one family's struggle with this illness. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

63. Health Library - Urea Cycle Disorders Hometown commitment. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network. http://www.phoebeputney.com/library/healthguide/SelfHelp/topic.asp?hwid=shc29ure

64. Urea Cycle Disorder urea cycle disorders. Copyright of Ability All Rights Reserved1990 Webmaster .Site Design by Ability see the ability, not the disability © Acknowledgments. http://www.ability.org.uk/Urea_Cycle_Disorder.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Urea Cycle Disorder National Urea Cycle Disorder Foundation - linking families, friends and professionals who are dedicated to the identification, treatment and cure. Urea Cycle Disorders Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

65. Argininosuccinic Aciduria (ASA) Patients with urea cycle disorders cannot convert nitrogen in the form of ammoniainto urea. Build up of ammonia is toxic and can cause brain damage. http://www.savebabies.org/diseasedescriptions/asa.htm

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Argininosuccinic Aciduria (ASA) A Urea Cycle Disorder Argininosuccinic Aciduria is also known as Argininosuccinic Acidemia, Argininosuccinase Deficiency, and Argininocuccinate Lyase Deficiency (ALD).

66. Disorders FDA OKs Landmark Liver Drug. urea cycle disorders. urea cycle disorders are geneticdisorders caused by a deficiency in one of the enzymes in the urea cycle. http://www.pku-allieddisorders.org/allieddisorders.htm

Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site: www.lowprotein.com Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. 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.

67. Benadryl Recall Information Contact Cynthia Le Mons National urea cycle disorders Foundation/ NationalCoalition for PKU and Allied Disorders (818)7902460 Cindy@nucdf.org. http://www.pku-allieddisorders.org/research_benadryl.htm

Home Research Resources Disorders ... FAQ Periflex Formula for PKU "off taste" Problem Dear Periflex Customers, SHS has experienced sensory differences in some samples of two batches of our formula, Periflex unflavored (Code 11402), specifically batch numbers #03294 and #03331. Some samples of these two batches have an "off-taste". Both batches passed full microbiological testings and are safe to consume. Additional testing indicates that the off-taste of these two batches is due to degradation of the fat component. The reason for this problem has not yet been determined. If you experience difficulties with your Periflex unflavored formula, please contact our Nutrition Information Department at 1-800-636-2283 and speak to one of our Nutrition Specialists. It is our policy to follow-up each product complaint by contacting our customers directly. We apologize for any inconvenience this problem might have caused. Please be assured that SHS is committed to providing safe products of the highest quality to our customers.

68. Newborn The new tests screen for three organic acidemia disorders and two urea cycle disorders. Ureacycle disorders fall into the category of amino acid disorders. http://www.odh.state.oh.us/New/NRls/02news2.htm

For immediate release January 31, 2002 ODH expands newborn screening to add five new disorder COLUMBUS – As of today, Ohio newborns will be screened for 12 disorders before leaving the hospital. The Ohio Department of Health (ODH) has added five new disorders to the seven previously covered in the state’s newborn screening panel. "Finding these problems early is key," said ODH Director J. Nick Baird, M.D. "Identifying these disorders in the infant's first few days of life, when they are treatable, can help prevent serious complications." By adding the five disorders, ODH is following the recommendations of the Ohio Newborn Screening Advisory Committee, comprised of experts in the fields of pediatric endocrinology, metabolism, genetics and other health specialties. Newborn screening has been recognized as one of the 50 most successful public health programs of the 20 th century, Baird said. ODH has had a newborn screening program since 1965. The new tests screen for three organic acidemia disorders and two urea cycle disorders. The organic acidemia disorders include isovaleric acidemia, methylmalonic acidemia and propionic acidemia. The urea cycle disorders are citrullinemia and argininosuccinic aciduria.

69. NORD - National Organization For Rare Disorders, Inc. The urea cycle disorders are a group of rare disorders affecting the urea cycle,a series of biochemical processes in which nitrogen is converted into urea and http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Arginase Defi

70. Health Library - Urea Cycle Disorders Affiliates. urea cycle disorders. Self Help Clearinghouse. National UreaCycle Disorders Foundation. National network. Founded http://www.danhosp.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29ure

71. EMedicine - Hyperammonemia : Article Excerpt By: Kazi Imran Majeed, MD, FAAP Sex All the urea cycle disorders are inherited in an autosomal recessivepattern, except ornithine transcarbamoylase (OTC) deficiency, wh .. http://www.emedicine.com/neuro/byname/hyperammonemia.htm

(advertisement) Excerpt from Hyperammonemia Synonyms, Key Words, and Related Terms: urea cycle disorders, urea cycle enzyme deficiencies, hepatic encephalopathies, Reye syndrome, toxic encephalopathies, metabolic disorders, ornithine transcarbamoylase deficiency, OTC deficiency, N -acetylglutamate synthetase deficiency, NAGS deficiency, carbamoyl phosphate synthetase I deficiency, carbamyl phosphate synthetase I deficiency, CPS I deficiency, argininosuccinic acid synthetase deficiency, AS deficiency, argininosuccinic lyase deficiency, AL deficiency, arginase deficiency, isovaleric acidemia, propionic acidemia, methylmalonic acidemia, glutaric acidemia type II, multiple carboxylase deficiency, beta-ketothiolase deficiency, congenital lactic acidosis, pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, mitochondrial disorders, acyl CoA dehydrogenase deficiency, systemic carnitine deficiency, hyperammonemia-hyperornithinemia-homocitrullinuria, HHH Please click here to view the full topic text: Hyperammonemia Background: Ammonia is a normal constituent of all body fluids. At physiologic pH, it exists mainly as ammonium ion. Reference serum levels are less than 35

72. Health Library - Urea Cycle Disorders Your Health, Advanced Search. urea cycle disorders. Self Help Clearinghouse.National urea cycle disorders Foundation. National network. http://www.tetonhospital.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29ur

73. National Urea Cycle Disorders Foundation National urea cycle disorders Foundation. National network. Dues $35. Write Nationalurea cycle disorders Foundation, 4841 Hill St., La Canada, CA 91011. http://www.medhelp.org/amshc/amshc613.htm

Title: Groupe Aide Aux Enfants Tyrosinemiques de Quebec (French/English) Description: Provides support and information for parents of children with tyrosinemia type I (aka alpha foetoprotein or hepatorenal type hereditary tyrosinemia). Pamphlets and diet book available in French; literature available in French and English. Networks on computer, and face-to-face meetings. Scope: Model Number Groups: One group in Quebec Founded: Address: 3162 rue Granville Jonquiere, Quebec, G7S 2B9 Canada Telephone: Email: gerard.tremblay@sympatico.ca This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

74. Health Library - Urea Cycle Disorders HealthSource, urea cycle disorders. Self Help Clearinghouse. National UreaCycle Disorders Foundation. National network. Founded http://www.memorialhealthsource.com/library/healthguide/SelfHelp/topic.asp?hwid=

75. Health Library - Urea Cycle Disorders Physician Search Nursery Net Ways of Giving. urea cycle disorders. SelfHelp Clearinghouse. National urea cycle disorders Foundation. http://www.altru.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29ure

76. Healthfinder® — National Urea Cycle Disorders Foundation - NUCDF This nonprofit organization is dedicated to the identification, treatment and cureof urea cycle disorders. National urea cycle disorders Foundation - NUCDF. http://www.healthfinder.gov/orgs/HR3331.htm

health library just for you health care organizations search: help National Urea Cycle Disorders Foundation - NUCDF organization URL(s) www.nucdf.org/ other contact information 4841 Hill Street La Canada, CA 91011 800-38NUCDF (Voice - Toll-free) description This non-profit organization is dedicated to the identification, treatment and cure of urea cycle disorders. The National Urea Cycle Disorders Foundation (NUCDF) provides information, education and support to families and friends of persons affected by urea cycle disorders and the professionals who treat them. The Foundation's membership includes families from within the United States and its territories as well as international. online resources Urea Cycle Disorder http://www.nucdf.org/whatis.htm print resources A quarterly newsletter provides up-to-date medical research, nutritional information, helpful hints for day-to-day survival and personal family stories. related topics Birth Defect Metabolic Diseases Patient Advocacy Rare Diseases review date accessibility freedom of information act privacy contact us ... U.S. Department of Health and Human Services

77. Healthfinder® — Urea Cycle Disorder Urea Cycle Disorder. internet URL. http//www.nucdf.org/whatis.htm. sponsoringagency. National urea cycle disorders Foundation. description. http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=5134&lang=1

78. National PKU News: Reimbursement For Medical Foods For Inborn Errors Of Metaboli isovaleric acidemia and other disorders of leucine metabolism, glutaric acidemiatype I and tyrosinemia types I and II, and urea cycle disorders are rare http://web47.radiant.net/~pkunews/rights/AAPC.htm

Reimbursement for Medical Foods for Inborn Errors of Metabolism Statement by the American Academy of Pediatrics Committee on Nutrition This is a statement from the American Academy of Pediatrics, supporting reimbursement for medical foods (formulas) used for treatment of inborn errors of metabolism. Potential uses of this statement: advocating for legislation and/or convincing insurance carriers to cover medical foods. The recommendations in this policy statement do not indicate an exclusive course of treatment or procedure to be followed. Variations, taking into account individual circumstances, may be appropriate. Inborn errors of amino acid metabolism such as phenylketonuria, maternal phenylketonuria, maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, isovaleric acidemia and other disorders of leucine metabolism, glutaric acidemia type I and tyrosinemia types I and II, and urea cycle disorders are rare diseases that are treatable by diet. Treatment might include the restriction of one or more amino acids, the restriction of total nitrogen, or the supplementation of specific substances. Untreated, these diseases culminate in severe mental retardation or death. Once diagnosis is confirmed, treatment of amino acid and urea cycle disorders must be carefully monitored by a physician with expertise in metabolic diseases. Special medical foods, commercially available, are indispensable for the active, ongoing treatment of diagnosed amino acid and urea cycle disorders. Special medical foods would, if used as the sole dietary source, represent a hazard to affected and healthy children. US Public Law (Publ L) 100-290 defines the term medical food as ". . . a food which is formulated to be consumed or administered enterally under the supervision of a physician and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation." (Ref. 1)

79. VUMC Research; Display Faculty My clinical research interests include the use of nitrogen scavenging drugs inthe treatment of urea cycle disorders and in disorders of excess nitrogen http://medschool.mc.vanderbilt.edu/facultydata/php_files/part_dept/show_faculty/

80. Health Library - Urea Cycle Disorders My Personal Health Site Search Advanced Search. urea cycle disorders. SelfHelp Clearinghouse. National urea cycle disorders Foundation. http://www.covenanthealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29u

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