21. PROPIONIC ACIDEMIA propionic acidemia. Gas chromatography. Total ion chromatogram of aurine sample from a patient with propionic acidemia. http://ivo.medfac.acad.bg/lmp/bch/chrom/PROPION.htm

Propionic acidemia Gas chromatography Total ion chromatogram of a urine sample from a patient with Propionic acidemia Mass spectra of Propionylglycine TMS derivate above - from the urine sample; below – library reference spectrum Mass spectra of Methylcitrate TMS2 derivate above - from the urine sample; below – library reference spectrum

22. Organic Acidurias Malonyl CoA decarboxylase deficiency. 1. No. 4. 251000. Methylmalonic aciduria. 5.2. Yes. 5. 606054. propionic acidemia. 1. 3. Yes. BRANCHED CHAIN ORGANIC ACIDURIAS.1. 246450. http://ivo.medfac.acad.bg/lmp/bch/OrgAcids.htm

ORGANIC ACIDURIAS N OMIM DIAGNOSABLE DISEASES in LMP Diagnosed Patients Urine Bank SS Q C Biotinidase deficiency Holo carboxylase synthetase def iciency Yes Malonyl CoA decarboxylase def iciency No Methylmalonic aciduria Yes Propionic acidemia Yes BRANCHED CHAIN ORGANIC ACIDURIAS 3-Hydroxy-3-Methylglutaryl-CoA lyase def iciency (HMGCL) No 3-Hydroxyisobutyric aciduria 3-Methylcrotonyl-CoA carboxylase def iciency (MCCC1) No 3-Methylglutaconyl-CoA hydratase (MGA1-4) Isovaleric acidemia (IVA) No Mevalonic aciduria (MVK) No Mitochondrial acetoacetyl-CoA thiolase def iciency (MAT) No DISORDERS OF PYRIMIDINE METABOLISM Dihydropyrimidine dehydrogenase def iciency (DPYD) No Orotic aciduria (OA I-II) Yes DIBASIC ACIDURIAS 2-oxoadipic aciduria Glutaric acid em ia I No DISORDERS OF KREBS CYCLE AND GLYCOLYSIS 2-OH Glutaric acid emia Yes D-Glyceric aciduria No Fumarase deficiency No Dihydrolipoyl dehydrogenase (E3) def iciency No Hyperg lycerol emia Yes MISCELLANEOUS DISORDERS 4-Hydroxy butyric aciduria No Alkaptonuria Yes Canavan disease Yes SS – Selective Metabolic Screening; QC – Samples of External Quality Control (ERNDIM)

23. Arch Neurol -- Page Not Found Neurologic Nonmetabolic Presentation of propionic acidemia Author InformationWilliam L. Nyhan, MD, PhD; Carolyn Bay, MD; ElizaBeth Webb Beyer, RN, MSN http://archneur.ama-assn.org/issues/v56n9/abs/nob8249.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

24. Inborn Errors Of Metabolism: Organic Acidemia Association Parent Interprets Research on propionic acidemia. by Janice S. Boecker,mom to Kristin, PA. Dr. Miyazaki's research team has genetically http://www.oaanews.org/article.asp?article=176

25. Inborn Errors Of Metabolism: Organic Acidemia Association propionic acidemia Q A. by Dr. Alan Greene. Question Some friends of minerecently had a baby who was diagnosed with propionic acidemia. http://www.oaanews.org/article.asp?article=113

26. REFERENCES (2002) propionic acidemia Analysis of mutant propionylCoA carboxylase enzymesexpressed in Escherichia coli. Hum Mutat. 19(6)629-40. MEDLINE. http://www.uchsc.edu/sm/cbs/pcc/references.htm

REFERENCES PCCA Mutations Campeau E , Dupuis L, Leclerc D, Gravel RA Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. Hum Mol Genet [MEDLINE] Campeau E , Dupuis L, Le on-Del-Rio A, Gravel R Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Mol Genet Metab [MEDLINE] Campeau E, Desviat LR, Leclerc D, Perez B, Ugarte M, Gravel RA. Structure of the pcca gene and distribution of mutations causing propionic acidemia. Mol Genet Metab Sep-Oct;74(1-2):238-47 [MEDLINE] Desviat LR, Campeau E, Leclerc D, Perez B, Ugarte M, Scherer S, Gravel RA. Structure of the PCCA gene and identification of novel mutations in propionic acidemia. J Inherit Metab Dis (Suppl.1), p56 [MEDLINE not available] Heptinstall LE , Gillaspy EE, Loftus HM, Till J, Walter JH, Wraith JE, Besley GTN Mutation analysis in propionic acidaemia J Inherit Metab Dis (Suppl.2), p79 [MEDLINE not available] Ohura T , Narisawa K, Tada K, Iinuma K An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA J Inherit Metab Dis [MEDLINE] Ohura T , Narisawa K, Iinuma K Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia J Inherit Metab Dis [MEDLINE] Raby RB , Ward JC, Herrod HG (1994) Propionic academia and immunodeficiency. J Inherit Metab Dis 17: 250-251

27. About PCC propionic acidemia. A disorder of metabolic acidosis. propionic acidemiawas first described in 1961 by Childs et al. (1961). The http://www.uchsc.edu/sm/cbs/pcc/about_pcc.htm

ABOUT PCC KRAUSLAB MAIN PAGE CBS PCC PCCA mutations ... Mutation submission About PCC Other PCC pages DIAGNOSTICS SEARCH PROPIONIC ACIDEMIA A disorder of branch-chain amino acid metabolism characterized by the build-up of propionic acid resulting in episodes of vomiting, dehydration, and severe metabolic acidosis. Propionic acidemia was first described in 1961 by Childs et al. (Fenton and Rosenberg 1995) . Surtees et al. have also reported a high prevalence of neurologic sequelae, including dystonia, severe chorea, and pyramidal signs, particularly in patients who survive longer. Leukopenia and thrombocytopenia, perhaps due to marrow suppression by one or more of the toxic metabolites produced, is also not uncommon. Recently, magnetic resonance imaging of the brain in three PCC patients revealed delayed myelination and some cerebral atrophy. Proton magnetic resonance spectroscopy from a voxel located in basal ganglia revealed a decrease in N-acetylaspartate and myo-inositol peaks and an elevation of GLN/GLU. The presence of spectroscopic abnormalities indicates that the metabolic balance on cerebral parenchymal level is less optimal than estimated from biochemical analysis of urine, plasma, or cerebrospinal fluid (Bergman et al. 1996). Biochemically, patients with this disorder present with elevated levels of propionic acid, methylcitrate

28. Propionic Acidemia Is A Rare Inherited Genetic Disorder Of propionic acidemia is a rare inherited genetic disorder of propionate metabolismcharacterized by greatly increased concentrations of propionate and related http://www.shsna.com/html/propionic.htm

Propionic Acidemia is a rare inherited genetic disorder of propionate metabolism characterized by greatly increased concentrations of propionate and related metabolites in blood and urine. The disorder is caused by a defective enzyme responsible for the metabolism of methionine, threonine, valine, and isoleucine as well as odd chain fats leading to elevated blood and tissue concentrations of related toxic organic acids. Clinical symptoms of propionic acidemia include metabolic acidosis, hyperammonemia, vomiting, failure-to-thrive, lethargy, respiratory distress, and coma. Untreated, a child may suffer from irreversible brain damage and death. Symptoms may be prevented and the disorder may be managed by diet. The treatment of propionic acidemia consists of strict dietary control of methionine, threonine, valine, and isoleucine intake. High protein foods are restricted in this diet (i.e., meat and meat products, milk and milk products, legumes, nuts, etc.). Low protein medical foods, minimal quantities of low-protein grains, fruits, and vegetables in combination with fat and sugar are permitted. Without additional calories and amino acids (excluding the above mentioned), a propionic acidemia patient would experience malnutrition. Thus, the majority of the patient's daily intake must come from a medical food free of methionine, threonine, valine, and isoleucine, but complete with vitamins, minerals, trace elements and essential and nonessential amino acids.

29. Taste And Choice Are The Key To Diet Compliance. SHS Offers A Formulas are available for Phenylketonuria, Maple Syrup Urine Disease, Tyrosinemia(Types I II), Homocystinuria, propionic acidemia and Methylmalonic Acidemia http://www.shsna.com/html/metabolic.htm

Indications Product Recommended Age Group Description Phenylketonuria (PKU) XPhe Analog Infants birth to 1 year phenylalanine-free XP Maxamaid Children 1 to 8 years XP Maxamum Children 8 years to adults Periflex Children over 1 year Phlexy-10 System Children and adults Maple Syrup Urine Disease (MSUD) MSUD Analog Infants birth to 1 year valine-, leucine-, isoleucine-free MSUD Maxamaid Children 1 to 8 years MSUD Maxamum Children 8 years to adult Acerflex Children over 1 year Tyrosinemia Type I XPhe, XTyr Analog Infants birth to 1 year phenylalanine-, tyrosine-free XPHEN, TYR Maxamaid Children 1 to 8 years XPTM Analog Infants birth to 1 year phenylalanine-, tyrosine-, methionine-free Hypermethioninemia Homocystinuria -Vitamin B non-responsive due to Cystathionine B-Synthase Deficiency XMet Analog Infants birth to 1 year methionine-free XMET Maxamaid Children 1 to 8 years XMET Maxamum Children 8 years to adult Propionic Acidemia XMTVI Analog Infants birth to 1 year methionine-, threonine-, valine-free, isoleucine low XMTVI Maxamaid Children 1 to 8 years XMTVI Maxamum Children 8 years to adult Methylmalonic Acidemia Vitamin B12 non-responsive XMTVI Analog Infants birth to 1 year methionine-, threonine-, valine-free, isoleucine low

30. NORD - National Organization For Rare Disorders, Inc. General Discussion propionic acidemia is a rare metabolic disorder characterizedby deficiency of propionyl CoA carboxylase, an enzyme involved in the http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acidemia, Pro

31. Health Library - Acidemia, Propionic propionic acidemia is a rare metabolic disorder characterized by deficiency of propionylCoA carboxylase, an enzyme involved in the breakdown (catabolism) of http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

32. Searchalot Directory For Propionic Acidemia Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology,pathogenesis, clinical features, investigations and management. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Prop

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Propionic Acidemia Related Web Sites Pediatric Database - Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. eMedicine - An in depth look at Propionic acidemia. Cadence's Story - The story of one little girl's life with the genetic disease Propionic Acidemia. NORD - Acidemia, Propionic - Includes the synonyms, a general discussion and further resources. Related Categories Health: Conditions and Diseases: Rare Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!

33. Horizon Molecular Medicine Gaucher disease, Homocystinuria, Isovaleric acidemia, Methylmalonic acidemia,Mitochondrial oxidative phosphorylation disorders, propionic acidemia. http://www.horizonmedicine.com/symptomguide.asp

Monday, March 31, 2003 Conditions Ordering Tests Key Players Factors Influencing Test Results ... Website Links Approach to common genetic/metabolic problems select from list Approach to Cardiomyopathy *Approach to Hypoglycemia *Approach to Hyperammonemia *Approach to Metabolic Acidosis (PDF) *Developed by Mark Korson, M.D. Tufts-New England Medical Center Boston, MA Symptom Guide Anemia/thrombocytopenia Gaucher disease Homocystinuria Isovaleric acidemia Methylmalonic acidemia ... Propionic acidemia Arthritis/joint abnormalities Hemochromatosis Mucopolysaccharidoses Wilson disease Ataxia/unsteady gait Angelman syndrome Argininosuccinic acid lyase deficiency Argininosuccinic acid synthetase deficiency Biotinidase deficiency ... Tyrosinemia type III Cardiomyopathy/Cardiac problems Carnitine palmitoyltransferase II deficiency Fabry disease Glycogen storage disease Hemochromatosis ... Wilson disease Developmental delay/mental retardation X-linked adrenoleukodystrophy Angelman syndrome Arginase deficiency Argininosuccinic acid lyase deficiency ... Niemann-Pick disease types A, B, and C

34. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders propionic acidemia .Uncover eMedicine An in depth look at propionic acidemia. NORD http://www.1uphealth.com/links/genetic-disorders-propionic-acidemia.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 : Propionic Acidemia Description See Related Categories Health: Conditions and Diseases: Rare Disorders Sites Cadence's Story The story of one little girl's life with the genetic disease Propionic Acidemia. eMedicine An in depth look at Propionic acidemia. NORD - Acidemia, Propionic Includes the synonyms, a general discussion and further resources. Pediatric Database Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. 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.

35. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Sites eMedicine An in depth look at propionic acidemia. NORD - Acidemia, Propionic- Includes the synonyms, a general discussion and further resources. http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Genetic Disorders : Propionic Acidemia See also: Health: Conditions and Diseases: Rare Disorders Sites: eMedicine - An in depth look at Propionic acidemia. NORD - Acidemia, Propionic - Includes the synonyms, a general discussion and further resources. Pediatric Database - Offers a definition of propionic acidemia as well as the epidemiology, pathogenesis, clinical features, investigations and management. Last update: 5:24 PT, Wednesday, January 29, 2003 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

36. Connexion 2000. 2, Detection of a normally rare transcript in propionic acidemia patientswith mRNA destabilizing mutations in the PCCA gene. Campeau E, et al. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=PCCA

37. Presentacion PCCA gene causing identical exon skipping in propionic acidemia patients . http://www2.cbm.uam.es/cedem/public4.html

PUBLICACIONES 91. "Two cases of biotinidase deficiency within a 9 day period after 8 years of neonatal screening involving the analysis of 175.000 newborn children" .D.E. Castiñeiras, M.L. Couce, J.R. Alonso Fernández, M. Castro, C. Pérez-Cerdá and M. Ugarte. Proceedings III International Society for Neonatal Screening. Editors H. L. Levy, R. J. Hermos, G. F. Grady. (1997) 190-191. 92. "The STR 252-IVS10nt546-VNTR7 phenylalanine hydroxylase minhaplotype in five Mediterranean samples". F. Cali, A. Piazza, I.Dianzani, L.R. Desviat, B. Pérez, M. Ugarte, M. Ozguc, Y. Shiloh, S. Giannattasio, C. Carducci and V. Romano. Hum Genet (1997) 100:350-355 93. "Relationship between mutation genotype and biochemical phenotype in a heterogeneus Spanish PKU population" L. R. Desviat, B. Pérez, M.J. García, M. Martinez Pardo, A. Baldellou, J. Arena, P. Sanjurjo, J. Campistol, M.L. Couce, A. Fernández, J. Cardesa and M. Ugarte. Eur. J Hum. Genet. (1997) 5:196-202 94. "Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients". Eva Richard, Lourdes R. Desviat, Belén Pérez, Celia Pérez-Cerdá and M. Ugarte. Hum Genets (1997) 101:93-96 95. "Forma intermitente de la hiperamoniemia tipo II. Dificultad en el diagnóstico". A. Martínez-Bermejo, J. Arcas, C. Roche, V. López-Martín, R. Lama, M.J. García, B. Merinero, V. Rubio e I. Pascual-Castroviejo. Revista de Neurología (1997) 25(145): 1438-1470.

38. Directory :: Look.com propionic acidemia (4) See Also. Sites. Cadence's Story The story of onelittle girl's life with the genetic disease propionic acidemia. http://www.look.com/searchroute/directorysearch.asp?p=593664

39. South African Journal Of Science A recent achievement in the department was the prenatal diagnosis ofpropionic acidemia, an often fatal deficiency condition. This http://www.nrf.ac.za/sajs/sm_feb98.stm

HISTORICAL INFORMATION History of SAJS TYPE OF MATERIAL PUBLISHED Research in Action News and Views Commentary History of Science ... Review Articles SPECIAL FEATURES First ever discovery of a well-preserved skull and associated skeleton of an Australopithecus The Drimolen skull: the most complete australopithecine cranium and mandible to date HIV/AIDS research in South Africa ... The Complete Modeller: papers in honour of Tony Starfield BOOK REVIEWS Advice to reviewers Volume 94 No. 2 February 1998 Prenatal detection of inborn errors of metabolism The latest developments in mass spectrometry provide a highly sensitive and flexible means of automatically screening for biological markers. This extends the range of detecting sometimes fatal genetic disorders, in an unborn baby for instance, from the presence and ratios of certain chemicals in a blood sample. The Department of Biochemistry and Microbiology at Potchefstroom University considers that more than 400 human disorders may be caused by mutations of a single gene. Most of the individual diseases are quite rare but collectively their incidence is considerable. Approximately 100 inborn errors of metabolism can now be detected prenatally, most by testing for the primary enzyme defect, some by measuring abnormal amounts of specific metabolites or high molecular weight storage material, and some by demonstrating the mutation at DNA level. Having recently acquired a Micromass Quatro II triple quadrupole LCMS/MS for tandem mass spectrometry, the department has progressed from its earlier gas phase system to a liquid one able rapidly to analyse acylcarnitine metabolites, amino acids and bile acids in whole blood and urine. The apparatus is so versatile that it can also be used for peptide and protein analysis.

40. OS 1/OS 2 For Consumers For use in the nutritional management of infants, children, or adultswith propionic acidemia, or methylmalonic aciduria. Propionic http://www.meadjohnson.com/metabolics/2os1os2.html

For use in the nutritional management of infants, children, or adults with propionic acidemia, or methylmalonic aciduria Return to Top

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 93    Back | 1  | 2  | 3  | 4  | 5  | Next 20