41. Propionic Acidemia: A Neuropathology Case Report And Review Of Prior Cases propionic acidemia is a disorder of branchchain amino acid and odd-chain fatty acid Although a previously unreported finding in propionic acidemia, http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216

42. Archives Of Pathology And Laboratory Medicine 127:e325-e328, 2003 propionic acidemia A Neuropathology Case Report and Review of Prior Cases propionic acidemia is a disorder of branchchain amino acid and odd-chain http://arpa.allenpress.com/arpaonline/?request=get-abstract&doi=10.1043/1543-216

43. Journal Of Pediatric Hematology Oncology - UserLogin propionic acidemia With Myelodysplasia and Neutropenia in a Turkish Child propionic acidemia is an inherited metabolic disorder. http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200403000-00003.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt01 Release 4.0

44. Expanded Newborn Screening Using Tandem Mass Spectromety Disorder name propionic acidemia Acronym PA. What is PA? What causes PA? PA stands for propionic acidemia . It is one type of organic acid disorder. http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html

Home About Us Disorders Glossary ... FAQs For Parents...................... General Information Genetics Overview Disorder Factsheets How to Obtain Screening For Professionals............ General Information Genetics Overview Disorder Factsheets Genetic Fact Sheets for Parents Organic Acid Oxidation Disorders Disorder name: Propionic Acidemia Acronym: PA What is PA? What causes PA? If PA is not treated, what problems occur? What is the treatment for PA? ... Where can I find more information? This fact sheet has general information about PA. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with PA should be followed by a metabolic doctor in addition to their primary care provider. What is PA? PA stands for "propionic acidemia". It is one type of organic acid disorder . People with PA have problems breaking down and using certain amino acids from the food they eat. Organic Acid Disorders: Organic acid disorders (OAs) are a group of rare inherited conditions. They are caused by

45. OMIM - PROPIONIC ACIDEMIA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606054

46. Propionic Acidemia - Descipher Health . Table of contents. 1 Synonyms. 2 Cause......propionic acidemia. From Descipher Health. (Redirected from Ketotic glycinemia). http://www.descipher.com/health/info/Ketotic_glycinemia

Do you have lab results? Propionic acidemia From Descipher Health (Redirected from Ketotic glycinemia Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms ketotic glycinemia, propionyl-CoA carboxylase deficiency, PCC deficiency, ketotic hyperglycinemia edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Propionic_acidemia Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

47. Propionic Acidemia - Descipher Health . Table of contents. 1 Synonyms. 2 Cause......propionic acidemia. From Descipher Health. (Redirected from Ketotic hyperglycinemia). http://www.descipher.com/health/info/Ketotic_hyperglycinemia

Do you have lab results? Propionic acidemia From Descipher Health (Redirected from Ketotic hyperglycinemia Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms ketotic glycinemia, propionyl-CoA carboxylase deficiency, PCC deficiency, ketotic hyperglycinemia edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Propionic_acidemia Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

48. Prolegomena Of Gina Marie Iaquinto - AAC For Persons With Propionic Acidemia Student Projects ASC 823X Augmentative Communication Prolegomena Gina Marie Iaquinto AAC Aspects of propionic acidemia February 4, 2005 http://www.msu.edu/course/asc/823x/Archives/Y05/Prolegomenata/Prolegomena_by_Gin

ASC 823X Student Projects S05 ASC 823x S05 Home Student Projects ASC 823X Augmentative Communication Prolegomena Gina Marie Iaquinto AAC Aspects of Propionic Acidemia February 4, 2005 Format 1. Length of Presentation 25 minutes including final quiz 2. There will be a quiz of 5 questions given out at the beginning of the presentation, with the answers given at the end. The quiz will be on a handout, with the answers written somewhere (upside down, other side, etc....) 3. Presentation should be rich in audiovisual content: e.g., video, slides, handouts. The materials can be presented in PowerPoint format with video and audio and animations, etc. 4. The presentation, including video files, can be put on a CD-ROM and distributed to fellow students. 5. While you are preparing your presentation, you are encouraged to place materials, including this Prolegomena, on the web, through our web site. This is an important part of our course, since it fosters team participation. 6. Rehearse and time your presentation. JBE will be forced to use the "HOOK" if you go over even by 1 nanosecond! Content A. Introduction: Definition of population (Define Propionic Acidemia)

49. AAC For Persons With Propionic Acidemia -- Gina Marie Iaquinto More Here Page AAC for Persons with propionic acidemia Gina Marie Iaquinto. http://www.msu.edu/~iaquinto/morehere.html

Gina Marie Iaquinto Home Gina Marie Iaquinto Future Page ASC 823x Student Projects More Here Page AAC for Persons with Propionic Acidemia Gina Marie Iaquinto

50. Arch Neurol -- Abstract: Neurologic Nonmetabolic Presentation Of Propionic Acide Background Patients with propionic acidemia usually present in the neonatal Conclusions propionic acidemia can present as a pure neurologic disease http://archneur.ama-assn.org/cgi/content/abstract/56/9/1143

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 56 No. 9, September 1999 Featured Link E-mail Alerts Observation Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Nyhan WL Mazi M ISI Web of Science (14) Contact me when this article is cited Topic Collections Nutritional and Metabolic Disorders Nutrition/ Malnutrition Topic Collection Alerts Neurologic Nonmetabolic Presentation of Propionic Acidemia William L. Nyhan, MD, PhD Carolyn Bay, MD ElizaBeth Webb Beyer, RN, MSN Melissa Mazi, MD Arch Neurol. Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic

51. Propionic Acidemia (PPA) - KP Genetics Northern California As a result, these amino acids cannot be metabolized properly causing Propionic Acid (PPA) to build up in the blood and damage the body, especially the http://www.dor.kaiser.org/genetics/home/ppa.htm

Staff Directory Glossary Site Map Search Detailed Definition PPA is a condition that occurs when the body lacks an enzyme needed to break down (metabolize) protein. When this enzyme is missing, parts of the protein build up in the body and cause damage to the nervous system, especially the brain. If left untreated, PPA can result in vomiting, anorexia, cardiac problems, blood disorders, failure to thrive, develomental delays, mental retardation, and even death. People with PPA also have trouble metabolizing several types of fatty acids (specifically, these include some of the odd-chain and polyunsaturated fatty acids). Causes/Types PPA is an inherited disorder. The mode of inheritance is called "autosomal recessive", meaning that each parent carries a gene for the disorder that is passed on to the baby. PPA is caused by a malfunction in a pair of genes. Genes give the body the instructions it needs for growth and healthy development. They come in pairs and a baby receives one copy of each gene from the mother and one from the father. Everyone has some genes that have the potential to cause serious disease. Whether they do or not is beyond human control. There is nothing any parent can do to cause or prevent a change in a gene.

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

REFERENCES * An asterisk denotes an unpublished observation. 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

53. About PCC propionic acidemia was first described in 1961 by Childs et al. (1961). PropionylCoA carboxylase deficiency causes propionic acidemia http://www.uchsc.edu/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

54. NICHD BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS CENTRAL DISORDER propionic acidemia AGE 19 year(s) 195 day(s) SEX Male RACE Caucasian POST MORTEM INTERVAL 24 hour(s) LENGTH OF TIME IN STORAGE AS OF NOVEMBER http://medschool.umaryland.edu/BTBank/M3385M.htm

NICHD BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS CENTRAL OFFICE: University of Maryland COLLABORATIVE SITE: University of Miami email: btbumab@umaryland.edu phone: 1-800-847-1539 CASE IDENTIFICATION CODE DISORDER: Propionic Acidemia AGE: 19 year(s) 195 day(s) SEX: Male RACE: Caucasian POST MORTEM INTERVAL: 24 hour(s) LENGTH OF TIME IN STORAGE AS OF NOVEMBER 2004: 1022 days AVAILABLE TISSUE TISSUE AVAILABLE FROM THESE ORGAN SYSTEMS BRAIN ENDOCRINE GASTROINTESTINAL GENITAL HEMATOPOIETIC INTEGUMENTARY MUSCULO-SKELETAL RESPIRATORY URINARY SPINAL CORD Please note! Effective January 2004, all Miami case identification code numbers have been modified. MIAMI case identification code BTB#3385 has been permanently changed to M3385M.

55. UniProtKB/Swiss-Prot Entry P05166 [PCCB_HUMAN] Propionyl-CoA Carboxylase Beta Ch DISEASE Defects in PCCB are the cause of propionic acidemia type II (PA2) MIM606054. PA-2 is a life-threatening disease characterized by episodic http://www.expasy.org/uniprot/P05166

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession number Entered in Swiss-Prot in Release 05, August 1987 Sequence was last modified in Release 34, October 1996 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Propionyl-CoA carboxylase beta chain, mitochondrial [Precursor] Synonyms EC PCCase beta subunit Propanoyl-CoA:carbon dioxide ligase beta subunit Gene name Name: PCCB From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE. TISSUE Fibroblast Kidney , and Liver PubMed=8188292 [ NCBI ExPASy EBI Israel ... Lamhonwah A.-M.

56. UniProtKB/Swiss-Prot Entry P05165 [PCCA_HUMAN] Propionyl-CoA Carboxylase Alpha C Genetic heterogeneity in propionic acidemia patients with alphasubunit defects DISEASE Defects in PCCA are the cause of propionic acidemia type I http://www.expasy.org/uniprot/P05165

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession number Entered in Swiss-Prot in Release 05, August 1987 Sequence was last modified in Release 38, July 1999 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Propionyl-CoA carboxylase alpha chain, mitochondrial [Precursor] Synonyms EC PCCase alpha subunit Propanoyl-CoA:carbon dioxide ligase alpha subunit Gene name Name: PCCA From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [MRNA]. PubMed=2740237 [ NCBI ExPASy EBI Israel ... Lamhonwah A.-M.

57. Detection Of A Normally Rare Transcript In Propionic Acidemia Patients With MRNA propionic acidemia is an autosomal recessive disorder caused by a deficiency in propionic acidemia is a rare, autosomal recessive inborn error of the http://hmg.oxfordjournals.org/cgi/content/full/8/1/107

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (12) Request Permissions PubMed PubMed Citation Articles by Campeau, E. Articles by Gravel, R. A. Human Molecular Genetics Pages Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene Introduction Results Cell line 117 (R.H.) Cell line 503 (P.M.) ... References Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene Eric Campeau Lucie Dupuis Daniel Leclerc Roy A. Gravel* McGill University, Departments of Biology, Human Genetics and Pediatrics, Montreal Children's Hospital Research Institute, Suite 222, 4060 Ste-Catherine Ouest, Canada Received August 10, 1998;

58. Detection Of A Normally Rare Transcript In Propionic Acidemia Patients With MRNA propionic acidemia is an autosomal recessive disorder caused by a deficiency in the mitochondrial enzyme propionylCoA carboxylase (PCC). http://hmg.oxfordjournals.org/cgi/content/abstract/8/1/107

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (12) Request Permissions PubMed PubMed Citation Articles by Campeau, E. Articles by Gravel, R. A. ARTICLES Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene E Campeau, L Dupuis, D Leclerc and RA Gravel McGill University, Departments of Biology, Human Genetics and Pediatrics, Montreal Children's Hospital Research Institute, Suite 222, 4060 Ste-Catherine Ouest, Montreal, Quebec H3Z 2Z3, Canada. Propionic acidemia is an autosomal recessive disorder caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase (PCC). PCC

59. ãÑÖ ÇÑÊÝÇÚ ÇáÍãÖ ÇáÈÑæÈíæäí Propionic Acidemia In Arabic The summary for this Esperanto page contains characters that cannot be correctly displayed in this language/character set. http://www.werathah.com/meta/msud.htm

Maple Syrup Urine Disease MSUD MSUD Aminoacids MSUD Leucine Isoleucine Valine MSUD MSUD Classical MSUD peritonial Dialysis ) MSUD MSUD (Leucine Encephalopathy MSUD Thiamin ) Carnitine ) MSUD

60. The Health Library — Nutritional & Metabolic propionic acidemiaNWRNSP PDF. propionic acidemia (Propionyl CoA Carboxylase Deficiency)eMedicine propionic acidemiaGenetics Home Reference, NLM http://healthlibrary.stanford.edu/resources/internet/bodysystems/metabolic_np.ht

Diseases and Disorders Nutrition: General Nutrition Dietary Recommendations Dietary Supplements Caffeine ... Water Balance Nutritional Disease: Malnutrition Obesity Metabolic Disease: General Metabolic Disease A-E F-G H-L ... R-Z Metabolic Diseases (N - P) (Jump to: A B C D E F G H I J K L M N ... P Q R S T U V W X Y Z Niemann-Pick Disease What Is Niemann-Pick Disease?:National Niemann-Pick Disease Foundation Niemann-Pick Disease:NINDS Niemann-Pick Disease:Jewish Genetic Diseases Types A and B Niemann-Pick Disease:Mt. Sinai School of Medicine ... Niemann-Pick Disease, Type C:GeneReviews Nonketotic Hyperglycinemia About NKH:NKH International Family Network Nonketotic Hyperglycinemia:Iowa Dept of Public Health [PDF] Glycine Encephalopathy:GeneReviews Organic Acidemia Organic Acidemia Overviews What Is Organic Acidemia?:Organic Acidemia Association Organic Acidemia:Mead Johnson Organic Acid Disorders (brief descriptions):Organic Acidemia Association The Organic Acidemias: An Overview:GeneReviews Beta Ketothiolase Deficiency Ketone Utilization Disorder, A Guide for Parents:Pacific Northwest Regional Genetics Group [PDF] Beta Ketothiolase Deficiency:NWRNSP [PDF] Beta Ketothiolase Deficiency:Genetics Home Reference, NLM

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 3     41-60 of 91    Back | 1  | 2  | 3  | 4  | 5  | Next 20