Current Research Topics in Propionic Acidemia
PA Consensus Conference

Copii National Medical Center, Washington, D.C.Reprinted from MOLECULAR GENETICS AND METABOLISM, Vol 105, Nu 1, 2012 Copyright (2011) with permission from Elsevier

“Propionic acidemia concensus conference summary", Kimberly A. Chapman, Marshall L. Summar, pp 3-4, Copyright (2011) with permission from Elsevier

“Natural history of propionic acidemia” Loren Pena, Jill Franks, Kimberly A. Chapman, Andrea Gropman, Nicolae Ah Mew, Anupam Chakrapani, Eddie Island, Erin MacLeod, Dietrich Matern, Brittany Smith, Kathy Stagni, V. Reid Sutton, Keiko Ueda, Tiina Urv, Charles Venditti, Gregory M. Enns, Marshall L. Summar,

“Neurologic considerations in propionic acidemia” John Schreiber, Kimberly A. Chapman, Marshall L. Summar, Nicolae Ah Mew, V. Reid Sutton, Erin MacLeod, Kathy Stagni, Keiko Ueda, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Smith, Tiina Urv, Charles Venditti, Anupam Chakarapani, Andrea L. Gropman

“Acute management of propionic acidemia” Kimberly A. Chapman a, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicolae Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V. Reid Sutton, Tiina Urv, Charles Venditti, Anupam Chakrapani

“Chronic Management and Health Supervision of Individuals with Propionic Acidemia” V. Reid Sutton a, Kimberly A. Chapman, Andrea L. Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicolae Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Smith, Tina Urv, Charles Venditti, Anupam Chakarapani

2013 PAF Education Conference Presentations

2010 PAF Education Conference Videos

Organic Acidemias by Barbara Burton, MD

Survey Results by Loren Pena, MD, Dr.

Nutritional Aspects of Treatment by Maryam Naziri RD, LDN

Genetics of Organic Acidemias by Katherine Kim MS

Anesthesia

Propionic Acidemia in a Four-Month-Old Male: A Case sStudy and Anesthetic Implications; H. Eugene Harker, MD, Dr., John D. Emhardt, MD, and Bryan E. Hainline, MD PhD Anesthesia & Analgesia 2000; 91:309-311.

Autism

prevalenta inalta a tulburari din spectrul autismului auto-raportate în acidemia Registrul propionic

Cardiologie

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D.
J Pediatr. 2007 Februarie;150(2):192-7, 197.e1.

Jameson E, Walter J.

Cardiac Arrest Secondary to Long QT(C )in a Child with Propionic Acidemia.
Pediatr Cardiol. 2007 Dec 5;

Kakavand B, Schroeder VA, Di Sessa TG.

Coincidence of long QT syndrome and propionic acidemia.
Pediatr Cardiol. 2006 Jan-Feb;27(1):160-1.

Mardach R, Verity MA, Cederbaum SD.

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.
Mol Genet Metab. 2005 August;85(4):286-90.

Dermatology

Lane TN, Spraker MK, Parker SS.

Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis.
Pediatr Dermatol. 2007 Sep-Oct;24(5):508-10.

Dietary Modifications

Yannicelli S, Acosta PB, Velazquez A, Bock HG, Marriage B, Kurczynski TW, Miller M, Korson M, Steiner RD, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold GL.

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.
Mol Genet Metab. 2003 Sep-Oct;80(1-2):181-8.

Gene Expression

Chapman KA1, Bush WS2, Zhang Z3.

Expresia genelor in liniile de celule de la pacienti acidemia propionic, Părinții de transport, și controale.

Mol Genet Metab. 2015 August;115(4):174-9. doi: 10.1016/j.ymgme.2015.05.004. EPub 2015 Mai 8.

Hearing

Brosch S, Rauffeisen A, Baur M, Michels L, Trefz FK, Pfister M.

[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]

HNO, 2008 Jan;56(1):37-42.

Hiperamoniemie

Nicolae Ah Mew, Robert McCarter, Evgheni Daikhin, Itzhak Nissim, Marc Yudkoff, Mendel și Tuchman
N-carbamylglutamate mareste Ureagenesis și reduce amoniac și glutamină în Acidemia propionic
Pediatrie, Iulie 2010; 126: E208 – E214.

Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N.

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
Mol Genet Metab. 2006 Jun;88(2):123-30.

Tuchman M, Caldovic L. Daikhin Y, Horyn O, Nissim I, Korson M, Burton B, Yudkoff M.

N-carbamylglutamate îmbunătățește semnificativ în ureagenesis N-acetilglutamat deficit și acidemia propionic măsurată prin încorporarea izotopică și biomarkeri de sange.

Pediatr Res. 2008 Apr 9.

Intestinal Motility

Prasad C, Nurko S, Borovoy J, Korson MS.

The importance of gut motility in the metabolic control of propionic acidemia.

J Pediatr. 2004 Apr;144(4):532-5.

Liver Transplantation

Rela M, Battula N, Madanur M, Mieli-Vergani G, Dhawan A, Champion M, Raiman J, Heaton N.

Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up.
Am J Transplant. 2007 Sep;7(9):2200-3.

Barshes NR, Vanatta JM, Patel AJ, Carter BA, O’Mahony CA, Karpen SJ, Goss JA.

Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review.
Pediatr Transplant. 2006 Noiembrie;10(7):773-81.

Meyburg J, Hoffmann GF.

Liver transplantation for inborn errors of metabolism.
Transplantation. 2005 Sep 27;80(1 Suppl):S135-7. Review.

Kayler LK, Merion RM, Lee S, Sung RS, Punch JD, Rudich SM, Turcotte JG, Campbell DA Jr, Holmes R, Magee JC.

Long-term survival after liver transplantation in children with metabolic disorders.
Pediatr Transplant. 2002 August;6(4):295-300.

Metabolomics

Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G.

Metabolomics identifies perturbations in human disorders of propionate metabolism.
Clin Chem. 2007 Dec;53(12):2169-76. EPub 2007 Octombrie 19.

Mitochondrial Dysfunction

Schwab MA, Sauer SW, Okun JG, Nijtmans LG, Rodenburg RJ, van den Heuvel LP, Dröse S, Brandt U, Hoffmann GF, Ter Laak H, Kölker S, Smeitink JA.

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

Biochem J. 2006 August 15;398(1):107-12.

Mouse Model of PA / Gene Therapy

Generarea unui model Hypomorphic de propionic acidemia cedat la terapie genica de testare. Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Și Weaver, Venezia S, Kraus JP, Matern D, Florin MA. Mol Ther. 2013 Mai 7. doi: 10.1038/mt.2013.68. [EPub inainte de imprimare]

Adeno-asociate virusului serotip 8 (AAV8) Transferul Gene Salveaza un model de Neonatologie Lethal Murine de Acidemia propionic

Randy Joseph Chandler, Suma Chandrasekaran, Nuria Carrillo-Carrasco, Julien Simon Senac, Sean Hofherr, Michael o Barry, Charles Paul Venditti.

Pe termen scurt de salvare a mortalității neonatale într-un model de mouse de Acidemia propionic de terapie genica. Hofherr S, Senac JS, Chen CY, Palmer D, Ng P, Florin MA. Hum Gene Acolo. 2008 Noiembrie 24. [EPub inainte de imprimare] PMID: 19025475

Miyazaki T, Ohura T, Kobayashi M, Shigematsu Y, Yamaguchi S, Suzuki Y, Hata I, Aoki Y, Yang X, Minjares C, Haruta I, Uto H, Ito Y, Müller U.

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescueby postnatal, liver-specific supplementation via a transgene

J Biol Chem. 2001 Sep 21;276(38):35995-9. EPub 2001 Iulie 18.

Neurology

Nguyen NH, Morland C, Gonzalez SV, Rise F, Storm-Mathisen J, Gundersen V, Hassel B.

Propionate increases neuronal histone acetylation, but is metabolized oxidatively by glia. Relevance for propionic acidemia.
J Neurochem. 2007 Mai;101(3):806-14.

Newborn Screening

Ophthalmology

Propionic acidemia and optic neuropathy: a report of two cases.

Arias C, Raimann E, Peredo P, Cabello JF, Castro G, Valiente A, de la Parra A, Bravo P, Okuma C, Cornejo V. JIMD Rep. 2014;12:1-4. doi: 10.1007/8904_2013_234. EPub 2013 Iulie 2.

Optic nerve atrophy in propionic acidemia.

Ianchulev T, Kolin T, Moseley K, Sadun A. Ophthalmology. 2003 Sep;110(9):1850-4.

PCC Enzyme and Mutations

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P. World J Pediatr. 2014 Februarie;10(1):64-8. doi: 10.1007/s12519-014-0454-4. EPub 2014 Jan 25

Analiza mutatie in 54 pacienții propionic acidemia.

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Mullerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindnr M, Ensenauer R, Santr R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Burqi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grunert SC, Sass JO. J Inherit Metab Dis. 2011 Octombrie 27. [EPub inainte de imprimare]

Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W.

Propionic acidemia revisited: a workshop report.
Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43.

Jiang H, Rao KS, Yee VC, Kraus JP.

Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
J Biol Chem. 2005 Iulie 29;280(30):27719-27.

Sloane V, Waldrop GL.

Kinetic characterization of mutations found in propionic acidemia and methylcrotonylglycinuria: evidence for cooperativity in biotin carboxylase.
J Biol Chem. 2004 Apr 16;279(16):15772-8.

Chloupkova M, Maclean KN, Alkhateeb A, Kraus JP.

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. Hum Mutat. 2002 Jun;19(6):629-40.

Kelson TL, Ohura T, Kraus JP.

Chaperonin-mediated assembly of wild-type and utant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli.

Hum Mol Genet. 1996 Mar;5(3):331-7.

Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

Mol Genet Metab. 2009 Jan 19. [EPub inainte de imprimare)

Kaya N, Al-Owain M, Albakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P.

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.

Eur J Med Genet. 2008 August 26. [EPub inainte de imprimare]

Ugarte M, Aguado C, Desviat LR, Sanchez-Alcudia R, Rincon A, Perez B.

Propionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic ariations Causing Aberrantly Spliced Messenger RNA.
Am J Hum Genet. 2007 Octombrie 26;81(6)

Clavero S, Pérez B, Rincón A, Ugarte M, Desviat LR.

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
Hum Genet. 2004 August;115(3):239-47.

Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab. 2003 Jan;78(1):59-67.

Pérez-Cerdá C, Clavero S, Pérez B, Rodríguez-Pombo P, Desviat LR, Ugarte M.

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Biochim Biophys Acta. 2003 Mai 20;1638(1):43-9.

Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR.

Functional characterization of PCCA mutations causing propionic acidemia.
Biochim Biophys Acta. 2002 Noiembrie 20;1588(2):119-25.

Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel RA.

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
Mol Genet Metab. 2001 Sep-Oct;74(1-2):238-47.

Ugarte M, Pérez-Cerdá C,Rodríguez-Pombo P,Desviat LR, Pérez B, Richard E, uro S, Campeau E, Ohura T, Gravel RA.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Hum Mutat. 1999;14(4):275-82.

Prenatal Diagnosis

Bustamante-Aragones A, Pérez-Cerdá C, Pérez B, Rodriguez de Alba M, Ugarte M, Ramos C.

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

Mol Genet Metab. 2008 Iulie 1. (EPub inainte de imprimare)

Inoue Y, Ohse M, Shinka T, Kuhara T

Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GCMS.

J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Mar 4.

Aramaki S, Lehotay D, Nyhan WL, Macleod PM, Sweetman L.

Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia.

Inherit Metab Dis. 1989;12(1):86-8