21. EMedicine - Propionic Acidemia (Propionyl CoA Carboxylase propionic acidemia (Propionyl CoA Carboxylase Deficiency) In 1961, Childs et al published the earliest clinical report of a patient who ultimately http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Acidemia, Propionic propionic acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, http://my.webmd.com/hw/health_guide_atoz/nord500.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 Acidemia, Propionic Important It is possible that the main title of the report Acidemia, Propionic 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 PCC Deficiency Propionyl CoA Carboxylase Deficiency Ketotic Glycinemia Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type Disorder Subdivisions Propionic Acidemia, Type I (PCCA Deficiency) Propionic Acidemia, Type II (PCCB Deficiency) General Discussion Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures). Without appropriate treatment, coma and potentially life-threatening complications may result. In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an autosomal recessive trait.

23. Propionic Acidemia Proprionic Acidemia Coincidence of PKU and propionic acidemia in an Amish girl propionic acidemia Three novel splice mutations in the PCCA gene http://www.bdid.com/propacid.htm

HOME Propionic Acidemia Proprionic Acidemia Co-incidence of PKU and propionic acidemia in an Amish girl Propionic Acidemia Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients ... HOME

24. Rare Pediatric Disease Database WHAT propionic acidemia (PA) is an inherited metabolic disorder SIGNS SYMPTOMS Children with propionic acidemia usually present with serious illness http://www.madisonsfoundation.org/content/3/1/display.asp?did=278

25. Propionic Acidemia Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/propionic_acidemia.html

Orphanet database access Propionic acidemia Direct access to data Summary Clinical signs Constipation Hyperammonaemia Hypoglycemia Metabolism of aminoacids abnormal Liver enlargement (excl. storage dis.) Long QT/preexcitation/abnormal ECG Mental retardation(mild) Recurrent infections Cardiomyopathy Update : 04/09/2005 Orphanet database access

26. SHS North America -- Propionic Acidemia & Methylmalonic Acidemia Isovaleric Acidemia MSUD Modules PKU propionic acidemia Tyrosinemia. Neurology. KetoCal propionic acidemia Methylmalonic Acidemia http://www.shsna.com/pages/propianic_acidemia.htm

Home About Us Products Ordering ... Contact Us Products Pediatric GI/Allergy Neocate Infant Formula Neocate One+ Neocate Junior Pediatric E028 ... Pepdite One+ Metabolics At A Glance Glutaric Acidemia Hypermethioninemia Isovaleric Acidemia ... Tyrosinemia Neurology KetoCal Tarvil Modules Complete Amino Acid Essential Amino Acid Flavor Packets Phlexy-Vits ... Super Soluble Duocal Low Protein Products Loprofin and Wel-Plan Products Recommended Age Groups Description XMTVI Analog Infants birth to 1 year Methionine-, Threonine-, Valine-, free, Isoleucine low XMTVI Maxamaid Children 1 to 8 years Methionine-, Threonine-, Valine-, free, Isoleucine low XMTVI Maxamum Older children and adults Methionine-, Threonine-, Valine-, free, Isoleucine low

27. SHS North America -- XMTVI Analog Vitamin B12 nonresponsive methylmalonic acidemia; propionic acidemia proven methylmalonic or propionic acidemia while under strict medical supervision. http://www.shsna.com/pages/xmtvi_analog.htm

Home About Us Products Ordering ... Contact Us Products Pediatric GI/Allergy Neocate Infant Formula Neocate One+ Neocate Junior Pediatric E028 ... Pepdite One+ Metabolics At A Glance Glutaric Acidemia Hypermethioninemia Isovaleric Acidemia ... Tyrosinemia Neurology KetoCal Tarvil Modules Complete Amino Acid Essential Amino Acid Flavor Packets Phlexy-Vits ... Super Soluble Duocal Low Protein Products Loprofin and Wel-Plan Features Indications Preparation ... Ordering XMTVI Analog A methionine-, threonine-, valine-free and isoleucine-low powdered infant formula for the dietary management of vitamin B non-responsive methylmalonic acidemia or propionic acidemia. Main Features Methionine-, threonine-, valine-free and isoleucine-low unflavored powder Contains a balanced mixture of all other essential and non-essential amino acids, carbohydrate, fat, vitamins, minerals and trace elements (including iron, selenium and chromium)

28. Inborn Errors Of Metabolism: Organic Acidemia Association A good example is the organic acid disorder propionic acidemia. While elevation in propionic acid causes an anion gap acidosis, there are many other effects http://www.oaanews.org/whatisoaa.asp

Organic Acidemia Association a registered 501(c)3 Non Profit Parent Support Organization since 1991 13210 35th Avenue North, Plymouth, MN 55441 Tel: (763) 559-1797; Fax: (763) 694-0017 Email: OAANews@aol.com Search OAANews: Newsletters Questionnaire Sites of Interest GeneClinics Organic Acidemia Overview OAA Brochure What is Organic Acidemia? Definitions of various Organic Acid Disorders Board of Directors Contact Info Practical Nutritional Considerations Insurance Formula/Meds Information Info on Isovaleric Acidemia in Spanish OAA Holiday Donation Card Ketone Utilization Disorder Spanish Info Organic Acidaemias are a group of inheritable genetic metabolic disorders in which there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning. This defect results in a build up of chemicals, in this case usually acids, on one side of the metabolic blockage and a deficiency of vital chemicals on the other. This causes an overdosage of one chemical (often toxic) and the shortage of another which is essential to normal body functioning. The effect of the disorder will depend upon the age at which symptoms occur. Children with less severe forms of the conditions develop symptoms later.

29. Propionic Acidemia - Children's Hospital Boston Home propionic acidemia. Flower propionic acidemia. Programs that treat this condition or perform this procedure. Metabolism Program http://www.childrenshospital.org/az/Site1488/mainpageS1488P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home Propionic Acidemia Propionic Acidemia 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

30. Emergency Protocols propionic acidemia (PPA) is an autosomal recessive disorder of organic acid complications of propionic acidemia include pancreatitis, leukopenia and http://www.childrenshospital.org/newenglandconsortium/NBS/descriptions/PA.html

Propionic Acidemia Introduction Propionic acidemia (PPA) is an autosomal recessive disorder of organic acid metabolism. The deficiency of the enzyme Propionyl-CoA Carboxylase leads to the accumulation of organic acid metabolites, when the infant or child is ingesting a normal diet or under catabolic stress. This can be life threatening. Metabolic control with a special diet and prompt treatment of illnesses decreases morbidity and mortality. Clinical Features Neonatal Metabolic acidosis Vomiting Lethargy Feeding problems Infancy/childhood Developmental delay Seizure disorder Metabolic decompensation during an intercurrent infection Consequences After episodes of metabolic decompensation, affected patients often suffer neurological sequelae such as seizures, dystonia, chorea or mental retardation. Other known complications of propionic acidemia include pancreatitis, leukopenia and

31. Propionic Acidemia (PA) propionic acidemia (PA) is characterized by the accumulation of propionic acid due to a deficiency in Propionyl CoA Carboxylase, a biotin dependent enzyme http://www.pediatrix.com/body_screening_menu.cfm?id=1573

32. Acidemia, Propionic propionic acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) http://www.bchealthguide.org/kbase/nord/nord500.htm

var hwPrint=1;var hwDocHWID="nord500";var hwDocTitle="Acidemia, Propionic";var hwRank="1";var hwSectionHWID="nord500-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Acidemia, Propionic Important It is possible that the main title of the report Acidemia, Propionic 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 PCC Deficiency Propionyl CoA Carboxylase Deficiency Ketotic Glycinemia Hyperglycinemia with Ketoacidosis and Lactic Acidosis, Propionic Type Disorder Subdivisions Propionic Acidemia, Type I (PCCA Deficiency) Propionic Acidemia, Type II (PCCB Deficiency) General Discussion Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures). Without appropriate treatment, coma and potentially life-threatening complications may result. In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an autosomal recessive trait.

33. Carnitine Deficiency Syndromes propionic acidemia is another form of organic acidemia that occurs in infancy. The initial symptoms of propionic acidemia include failure to thrive, http://www.bchealthguide.org/kbase/nord/nord60.htm

var hwPrint=1;var hwDocHWID="nord60";var hwDocTitle="Carnitine Deficiency Syndromes";var hwRank="1";var hwSectionHWID="nord60-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Carnitine Deficiency Syndromes Important It is possible that the main title of the report Carnitine Deficiency Syndromes 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 Carnitine Deficiency, Myopathic Carnitine Deficiency, Primary Carnitine Deficiency, Secondary Muscle Carnitine Deficiency Renal Reabsorption of Carnitine, Defect Disorder Subdivisions Myopathic Carnitine Deficiency Systemic Carnitine Deficiency General Discussion Carnitine Deficiency Syndrome is a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic disorders. Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). A deficiency of carnitine, normally produced by the liver and kidneys, can result in extreme muscle weakness and other related symptoms. Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG

34. Pancytopenia In Propionic Acidemia: Hematologic Evaluation And Studies Of Hemato Pancytopenia in propionic acidemia hematologic evaluation and studies of hematopoiesis in vitro. LC Stork, DR Ambruso, SF Wallner, JE Sambrano, http://www.pedresearch.org/cgi/content/abstract/20/8/783

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Stork, L. C. Articles by McCabe, E. R. ARTICLES Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro LC Stork, DR Ambruso, SF Wallner, JE Sambrano, LC Moscinski, HL Wilson and ER McCabe This study investigated the hematologic abnormalities of an infant with propionic acidemia and reversible pancytopenia. Light and electron microscopy of her bone marrow revealed severely disturbed cellular morphology with trilineage dysmyelopoiesis, hemophagocytosis, and numerous multinucleated histiocytes and megakaryocytes. The effects of her serum and

35. Magnetic Resonance Imaging And Spectroscopy Of The Brain In Propionic Acidemia: Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and http://www.pedresearch.org/cgi/content/abstract/40/3/404

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Bergman, A. J. Articles by Poll- The, B. T. REVIEW Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations AJ Bergman, MS Van der Knaap, JA Smeitink, M Duran, L Dorland, J Valk and BT Poll- The Department of Metabolic Diseases, University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands. Three patients with propionic acidemia were studied. The first patient was diagnosed at the age of 9 mo, 3 mo after he developed hypotonia and choreoathetoid movements after an upper respiratory tract infection. The

36. RedNova News - Health - Propionic Acidemia Revisited: A Workshop Report Summary propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. http://www.rednova.com/news/health/111994/propionic_acidemia_revisited_a_worksho

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Friday, 17 December 2004, 03:00 CST E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Propionic Acidemia Revisited: A Workshop Report Summary: Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life. Mortality rate was one third, and details of symptoms and treatment of the surviving patients are discussed. The great variation of phenotypic expression of the disease and different therapeutic strategies (especially in regard to the degree of protein restriction) used at the various institutions involved in this study imply the need for a registry of PA patients and for a multicenter prospective treatment study. Clin Pediatr. 2004;43:837-843

37. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ eMedicine An in depth look at propionic acidemia. NORD Acidemia, Propionic - Includes the synonyms, a general discussion and further resources. http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Propionic Acidemia Subtopics See Also: Health: Conditions and Diseases: Rare Disorders Search Google: Propionic Acidemia News Books Links ... Study Shows Humans Have Ability To Track Odors, Much Like Bloodhounds (August 30, 2005) full story How The Brain Tunes Out Odors (January 5, 2005) full story Focusing On Preservatives: How They Keep Food Fresh (November 13, 2002) full story Cattle Diets Could Control E. Coli Danger (September 11, 1998) full story [ More news about Propionic Acidemia Error: We did not find any matches for your request. [ More books about Propionic Acidemia eMedicine - An in depth look at Propionic acidemia. Dr. Greene: Breastfeeding with a Metabolic Disorder and Propionic Acidemia - Breastfeeding a child with propionic acidemia is discussed in this question and answer format. NORD: Acidemia, Propionic - Includes the synonyms, a general discussion and further resources. Help build the largest human-edited directory on the web.

38. Nutrition Health Review: One In Every 50,000 Children - Postscripts - Propionic One in every 50000 children is born with propionic acidemia (PA), a genetic disorder that disrupts the metabolism of branchedchain amino acids. http://www.findarticles.com/p/articles/mi_m0876/is_85/ai_106027182

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Nutrition Health Review Spring 2003 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Propionic acid / Genetic aspects Propionic acid / Complications Children / Diseases Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports One in every 50,000 children - Postscripts - propionic acidemia - Brief Article Nutrition Health Review Spring, 2003 Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. One in every 50,000 children is born with propionic acidemia (PA), a genetic disorder that disrupts the metabolism of branched-chain amino acids. Children with PA must restrict their protein intake; otherwise, their bodies accumulate a buildup of propionic acid and other toxins. Patients are deficient in propionyl-CoA carboxylase (PCC), an enzyme that utilizes certain amino acids found in protein. Newborns with the disease immediately have problems consuming milk, and this inability often results in dehydration and death.

39. Propionic Acidemia propionic acidemia is a rare metabolic disorder characterized by deficiency of propionyl propionic acidemia is inherited as an autosomal recessive trait http://www.stormloader.com/users/saibabaservs/Propionic Acidemia.htm

Propionic Acidemia Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and episodes of uncontrolled electrical activity in the brain (seizures). Without appropriate treatment, coma and potentially life-threatening complications may result. In rare cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an autosomal recessive trait Remedy Characteristics Symptoms Patient Worse by Patient Better by Nux Vomica Rather thin, spare, quick, active, nervous, and irritable Does a good deal of mental work; has mental strains and leads a sedentary life, found in prolonged office work, overstudy, and close application to business, with its cares and anxieties.

40. Diseases & Conditions Acidemia, Propionic New propionic acidemia is a rare metabolic disorder characterized by propionic acidemia is inherited as an autosomal recessive trait http://www.stormloader.com/users/saibabaservs/Diseases & Conditions.htm

Click on the health condition applicable for you to find the possibly suitable remedies with their characteristic symptoms and the modalities of patient. The modalities of patient are the conditions which makes the patient generally worse or better. The suitable remedy is the one which matches your symptoms and modalities most. As explained earlier, you need not have all the symptoms and modalities listed under the remedy. Once having identified, please ensure that you take only one dose of the 30c potency of the selected remedy because repetition without proper evaluation could either cause severe aggravation or waste the remedy. Please remember that this is not a substitute for proper consultation with a Homeopath. In case of any doubt, please consult a homeopath locally or E Mail us. ACTH Deficiency ACTH Deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure (hypotension). The pituitary hormone called "adrenocorticotropic hormone" (ACTH) is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. AIDS (Acquired Immune Deficiency Syndrome) AIDS is an infectious disorder that suppresses the normal function of the immune system. It is caused by the human immunodeficiency virus (HIV), which destroys the body's ability to fight infections. Specific cells of the immune system that are responsible for the proper response to infections (T cells) are destroyed by this virus. Characteristically a person infected with HIV initially experiences no symptoms for a variable period of time. This may be followed by the development of persistent generalized swelling of the lymph nodes (AIDS-related lymphadenopathy). Eventually most patients infected with HIV experience a syndrome of symptoms that includes excessive fatigue, weight loss, and/or skin rashes.

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