61. Causes And Treatments Of Seizures Propionic and methylmalonic acidemias may produce pancytopenia. In addition, neonates with propionic acidemia should be given biotin and those with http://pediatricneuro.com/alfonso/pg77.htm

MainMenu Back Next Index Methylmalonic acidemia has amino and organic acid profiles similar to propionic acidemia, but also has very high levels of methylmalonic acid and higher lactic acid levels than propionic acidemia due to inhibition of pyruvate carboxylase. Some patients with methylmalonic acidemia also show homocystinuria, hypomethioninemia, and cystothioninuria. Propionic and methylmalonic acidemias may produce pancytopenia. The diagnosis of propionic and methylmalonic acidemias are established by finding decreased activity of propionyl-CoA carboxylase in leukocytes or cultured skin fibroblasts and decreased activity of methylmalonyl-CoA mutase in liver and cultured fibroblasts. A neutral pH does not exclude propionic and methylmalonic acidemias since the lactic acid elevation that occurs with these organic acidemias is usually in the 3 to 6 mmol/L range and a neutral pH is maintained until levels of lactic acids are at least 5 mmol/L. Treatment of propionic and methylmalonic acidemias consists of metabolic support, elimination of protein intake, removal of ammonia, and carnitine supplementation. In addition, neonates with propionic acidemia should be given biotin and those with methylmalonic acidemia should be given vitamin B12. Propionyl-CoA carboxylase deficiency also occurs in multiple carboxylase deficiency.

62. PCCB - Propionyl-CoA Carboxylase Beta Chain, Mitochondrial Precursor propionic acidemia can result from mutations in the PCCA or PCCB genes encoding The inherited metabolic disease propionic acidemia (PA) can result from http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/90850.html

We report 24 novel PA mutations, nine affecting the PCCA gene and 15 affecting the PCCB gene. Abstract-9722924 Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3 Abstract-5808342 Affected patients may have mutations of either the PCCA or PCCB gene. Abstract-9002936 An enzyme deficiency can result from mutations in either PCCA or PCCB Abstract-10418797 Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Abstract-8286627 Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. Abstract-10418797 PCC consists of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. Abstract-8412544 The alpha- and beta-subunits of the enzyme are encoded by the PCCA and PCCB genes, respectively. Abstract-6636369 PCC is composed of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. Abstract-1757511 Sequence analyses showed that accC and accB are co-transcribed and that pccB is transcribed separately.

63. 606054 PROPIONIC ACIDEMIA A number sign ( ) is used with this entry because propionic acidemia is caused by The features of propionic acidemia are episodic vomiting, lethargy and http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606054] -e

64. *232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA Cells from patients with propionic acidemia (606054) with mutations in the PCCA gene Among 15 Japanese patients with propionic acidemia, Ohura et al. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:232000] -e

65. Welcome To THE MIDDLE EAST JOURNAL OF EMERGENCY MEDICINE MANAGEMENT OF METABOLIC CRISIS IN propionic acidemia. Nadeem Qureshi propionic acidemia is a rare inorganic acid disorder and as such, the aspects of http://www.hmc.org.qa/mejem/sept2002/oral/oral6.htm

Volume 2/ Number 2/September 2002 Pages (10): TRAUMA AND HEAD INJURY: THE KHOULA HOSPITAL EXPERIENCE Mohammad Shahbaz Oman Introduction: Subject and Methods: This study was carried out retrospectively on head injury patients due to trauma admitted through accident and emergency department of Khoula Hospital, Muscat, Sultanate of Oman for the period of two years starting from January 1999 to December 2000. Glasgow Coma Scale was used to assess the level of severity of head injury and was classified as mild, moderate and severe. Objectives: The main aim of the study was to determine the morbidity and mortality due to head injury among trauma victims admitted in Khoula Hospital. Results: Of the total head injury patients due to trauma received at accident and emergency department Khoula Hospital, 54.2% were due to falls, 42.1% due to road traffic accidents, 3.2% due to assaults and 0.5 % due to sports injuries. Mortality was 7.4% in admitted head injury patients. Among them 86.6% died due to road traffic accidents, 12.8% due to falls and 0.6% due to assaults.

66. Indian Pediatrics - Editorial Apart from solitary cases of propionic acidemia, biotinidase deficiency, Although acidosis is the hallmark of propionic acidemia, an uncommon http://www.indianpediatrics.net/may2001/may-518-524.htm

Home Past Issue About IP About IAP ... Subscription Brief Reports Indian Pediatrics 2001; 38: 518-524 Clinical Features of Organic Acidemias: Experience at a Tertiary Care Center in Mumbai Mamta N. Muranjan Pratima Kondurkar From the Genetics Division, Department of Pediatrics, K.E.M. Hospital, Parel, Mumbai 400 012, India. Correspondence to: Dr. M.N. Muranjan, 3rd Floor, 16-B, Naushir Bharucha Marg, Tardeo, Mumbai 400 007, India. E-mail: drsuji@vsnl.com Manuscript received: July 4, 2000; Initial review completed: August 1, 2000; Revision accepted: November 2, 2000. Patients and Methods Results Inborn errors of metabolism were suspected in 231 patients. The diagnosis of organic acidemias was confirmed in 32 patients in whom results of GC-MS were available. In 24 patients, the mean age at presentation was 12.5 months (range 2-48 months). The remaining 8 were neonates and their clinical characteristics were studied as a separate group. There were 22 boys and 10 girls. Parental consanguinity was found in 11 (34.3%). Propionic acidemia and respiratory chain disorders seen in 19.3% each were the commonest organic acidemias diagnosed in this series followed by tricarboxylic acid cycle defects in 12.9% and methylmalonic acidemia in 9.6%. Rare disorders detected in this study were glutaric aciduria type I, holocarboxylase synthase deficiency, 3-methylglutaconic acid-uria type X, beta ketothiolase deficiency and carnitine-palmitoyltransferase deficiency with distal renal tubular acidosis (RTA).

67. Beach Center On Disability Both boys take Carnitor and Biotin for their propionic acidemia, supplemented with I have learned that diet is critical to the boys’ propionic acidemia. http://www.beachcenter.org/stories/print_friendly_story.asp?intResourceID=666&st

68. DBGET Result: OMIM 606054 MIM Entry 606054 Title 606054 propionic acidemia ;;PROPIONYLCoA CLINICAL FEATURES The features of propionic acidemia are episodic vomiting, http://www.genome.jp/dbget-bin/www_bget?omim 606054

69. South African Journal Of Science In propionic acidemia, a deficiency of PCC causes accumulation of the The latter is one of the key metabolites in propionic acidemia and is therefore 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.

70. Definitions Of Genetic Disorders -P propionic acidemia acidprop.htm propionic acidemia propacid.htm propionic acidemia Type I (PCCA Deficiency) propacid.htm propionic acidemia Type II (PCCB http://www.icomm.ca/geneinfo/def-p.htm

71. IngentaConnect Functional Characterization Of PCCA Mutations Causing Propionic A propionic acidemia (PA, MIM 232000 and 232050) is caused by a deficiency of mitochondrial biotindependent propionyl-CoA carboxylase (PCC, EC 6.4.1.3), http://www.ingentaconnect.com/content/els/09254439/2002/00001588/00000002/art001

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Functional characterization of PCCA mutations causing propionic acidemia Authors: Clavero S.; Martnez M.a.A.; Perez B.; Perez-Cerda C.; Ugarte M. ; Desviat L.R. Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease , Volume 1588, Number 2, 20 November 2002, pp. 119-125(7) Publisher: Elsevier Science View Table of Contents full text options Keywords: Propionic acidemia PCCA Mutation Expression analysis ... Genotype-phenotype correlation Language: English Document Type: Research article DOI: Affiliations: Dpto. Biologa Molecular, Centro de Biologa Molecular ''Severo Ochoa'', CSIC-UAM, Universidad Autonoma de Madrid, Campus de Cantoblanco, 28049 , Madrid, Spain Access to this article is through a website external to IngentaConnect You may be required to register and activate access/purchase before you can obtain the full text.

72. The Turkish Journal Of Pediatrics Neonatal onset propionic acidemia without acidosis a case report propionic acidemia is an inherited disorder of organic acid metabolism characterized http://tjp.dergisi.org/summary_en.php3?id=14

73. The Effects Of Spacing Protein Intake On Nitrogen Balance And Plasma Amino Acids on nitrogen balance and plasma amino acids in a child with propionic acidemia was studied in a 34month-old male child with propionic acidemia. http://www.jacn.org/cgi/content/abstract/1/3/305

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Queen, P. M. Articles by Fernhoff, P. M. JOURNAL ARTICLE The effects of spacing protein intake on nitrogen balance and plasma amino acids in a child with propionic acidemia P. M. Queen, P. B. Acosta and P. M. Fernhoff The effect of protein distribution on nitrogen balance and the plasma aminogram was studied in a 34-month-old male child with propionic acidemia. Protein provided 4.8% of energy of which high biological value protein was given either as a bolus or evenly distributed in three meals per day. Analysis of nitrogen balance including estimated sweat nitrogen losses revealed no major difference between the two diets. No marked differences in the fasting plasma concentrations of essential amino acids were noted with protein distribution. A generalized increase in concentration of all

74. Adult-onset Chorea And Dementia With Propionic Acidemia -- Sethi Et Al. 39 (10): propionic acidemia usually presents in the newborn period with severe metabolic acidosis and Neurologic Nonmetabolic Presentation of propionic acidemia http://www.neurology.org/cgi/content/abstract/39/10/1343

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 Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Sethi, K. D. Articles by Hommes, F. A. ARTICLES Adult-onset chorea and dementia with propionic acidemia KD Sethi, R Ray, RA Roesel, AL Carter, BB Gallagher, DW Loring and FA Hommes Department of Neurology, Medical College of Georgia, Augusta. Propionic acidemia usually presents in the newborn period with severe metabolic acidosis and lethargy. A 31-year-old man with adult onset chorea and dementia had propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolic investigations may prove useful in patients with movement disorder of unknown etiology.

75. Propionic Acidemia Prev Term Propionibacterium Next Term propionyl coA carboxylase. propionic acidemia. Use. ketotic hyperglycinemia. Send your comments to MultiTes. http://crisp.cit.nih.gov/Thesaurus/00013156.htm

Prev Term: Propionibacterium Next Term: propionyl coA carboxylase propionic acidemia Use: ketotic hyperglycinemia Send your comments to: Melody Lowe

76. Propionic Acidemia In A Four-Month-Old Male: A Case Study And Anesthetic Implica Implications propionic acidemia is a rare genetic disease associated with This case report provides information regarding propionic acidemia and its http://www.anesthesia-analgesia.org/cgi/content/abstract/91/2/309

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a colleague Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Harker, H. E. Articles by Hainline, B. E. Anesth Analg 2000;91:309-311 International Anesthesia Research Society PEDIATRIC ANESTHESIA Propionic Acidemia in a Four-Month-Old Male: A Case Study and Anesthetic Implications H. Eugene Harker, MD, PhD John D. Emhardt, MD , and Bryan E. Hainline, MD, PhD Departments of *Anesthesia and Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana Address correspondence and reprint requests to John D. Emhardt, MD, Department of Anesthesia, Indiana University School of Medicine, James Whitcomb Riley Hospital for Children, Room 2001, 702 Barnhill Dr., Indianapolis, IN 46202-5225. Implications: Propionic acidemia is a rare genetic disease associated with significant medical problems. When patients with this disease

77. Arch Pediatr Adolesc Med -- Abstract: Propionic Acidemia And Anorectal Anomalies The occurrence of propionic acidemia and anorectal anomalies in three siblings out of eight children in a consanguineous marriage suggests an autosomal http://archpedi.ama-assn.org/cgi/content/abstract/131/12/1379

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. 131 No. 12, December 1977 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Branski D Abrahamov A Contact me when this article is cited Propionic acidemia and anorectal anomalies in three siblings D. Branski, R. Gale, E. Gross-Kieselstein and A. Abrahamov Three siblings suffering from recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis were diagnosed as having ketotic hyperglycinemia secondary to propionic acidemia. They also had leukopenia and thrombocytopenia, and two of them had anorectal malformations, one an imperforate anus with rectoperineal fistula, and the other an ectopic anus. The occurrence of propionic acidemia and anorectal anomalies in three siblings out of eight children in a consanguineous marriage suggests an autosomal recessive genetic inheritance.

78. Kinetic Characterization Of Mutations Found In Propionic Acidemia And Methylcrot Kinetic Characterization of Mutations Found in propionic acidemia and Methylcrotonylglycinuria. EVIDENCE FOR COOPERATIVITY IN BIOTIN CARBOXYLASE* http://www.jbc.org/cgi/content/full/279/16/15772

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Originally published In Press as doi:10.1074/jbc.M311982200 on February 11, 2004 J. Biol. Chem., Vol. 279, Issue 16, 15772-15778, April 16, 2004 This Article Abstract Full Text (PDF) All Versions of this Article: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Sloane, V. Articles by Waldrop, G. L. Kinetic Characterization of Mutations Found in Propionic Acidemia and Methylcrotonylglycinuria EVIDENCE FOR COOPERATIVITY IN BIOTIN CARBOXYLASE Valerie Sloane and Grover L. Waldrop From the Division of Biochemistry and Molecular Biology, Louisiana State University, Baton Rouge, Louisiana 70803 Received for publication, October 31, 2003 , and in revised form, January 20, 2004.

79. Fatal Propionic Acidemia In Mice Lacking Propionyl-CoA Carboxylase And Its Rescu propionic acidemia (PA) is an inborn error of metabolism caused by the genetic deficiency of propionylCoA carboxylase (PCC). http://www.jbc.org/cgi/content/full/276/38/35995

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Originally published In Press as doi:10.1074/jbc.M105467200 on July 18, 2001 J. Biol. Chem., Vol. 276, Issue 38, 35995-35999, September 21, 2001 This Article Abstract Full Text (PDF) All Versions of this Article: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Miyazaki, T. Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific Supplementation via a Transgene Toru Miyazaki Toshihiro Ohura Makio Kobayashi Yosuke Shigematsu Seiji Yamaguchi Yoichi Suzuki Ikue Hata Yoko Aoki Xue Yang Christina Minjares Ikuko Haruta Hirofumi Uto Yuriko Ito , and From the Center for Immunology, The University of Texas Southwestern Medical Center, Dallas Texas 75390-9093, the

80. ACTUALIZACION DEL SEGUIMIENTO DE 29 NIÑOS CON ACIDURIA ORGANICA EN CHILE Parenteral nutrition in propionic acidemia and methylmalonic acidemia. http://www.siicsalud.com/dato/dat041/04n22004.htm

Comprar este artículo Extensión: 9.43 páginas impresas en papel A4 Artículos seleccionados para su compra ACTUALIZACION DEL SEGUIMIENTO DE 29 NIÑOS CON ACIDURIA ORGANICA EN CHILE (especial para SIIC © Derechos reservados) El pronóstico de ésta patología depende estrechamente de la forma de presentación y del seguimiento frecuente y estricto. Autor: Verónica del Carmen Cornejo Espinoza Columnista Experta de SIIC Institucion: Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile Artículos publicados por Verónica del Carmen Cornejo Espinoza participaron en la investigación Marta Paulina Colombo Campbell* Alicia de la Parra Cieciwa** Paulina Mabe Santana*** Juan Francisco Cabello Andrade**** Alf Gunther Valiente Gallardo***** Erna Angela Raimann Ballas****** Prof. Titular, Neurólogo infantil. Hospital Van Buren , Valparaíso *****Bioquímico INTA, Universidad de Chile ******Profesor Asistente, Pediatra. INTA, Universidad de Chile Recepción del artículo: 3 de Mayo, 2004 Aprobación: 15 de Septiembre, 2004 Primera edición: 26 de Noviembre, 2004

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