Current Research Topics in Propionic Acidemia
PA Consensus Conference
Kinder National Medical Center, Washington, D.C.Reprinted from MOLECULAR GENETICS AND METABOLISM, Vol 105, KEIN 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, Nicholas 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, Nicholas 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, Nicholas 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, Nicholas 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, PhD
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, PhD, John D. Emhardt, MD, and Bryan E. Hainline, MD PhD Anesthesia & Analgesia 2000; 91:309-311.
| Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report | |
Jiyoung Ryu, Young Hee Shin, Justin Sangwook Ko, Mi Sook Gwak und Gaab-Soo Kim |
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| Department of Anesthesiology and Pain Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. |
Autism
Eine hohe Prävalenz von selbst berichteten Autismus-Spektrum-Störung in der Propionazidämie Registry
Erstmals veröffentlicht: 10 Dezember 2019 https://doi.org/10.1002/jmd2.12083
Cardiology
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 Februar;150(2):192-7, 197.e1.
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
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.
Genexpression in Zelllinien aus Propionazidämie Patienten, Träger Eltern, und Kontrollen.
Mol Genet Metab. 2015 August;115(4):174-9. zwei: 10.1016/j.ymgme.2015.05.004. Epub 2015 Kann 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.
Hyperammonämie
Nicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, Itzhak Nissim, Marc Yudkoff, und Mendel Tuchman
N-carbamylglutamate Augments Ureagenesis und reduziert Ammoniak und Glutamin in Propionazidämie
Pädiatrie, Juli 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 deutlich verbessert ureagenesis in N-Acetylglutamatsynthase Mangel und Propionazidämie von Isotopen Einarbeitung und Blut-Biomarker gemessen.
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 November;10(7):773-81.
Liver transplantation for inborn errors of metabolism.
Transplantation. 2005 Sep 27;80(1 Suppl):S135-7. Review.
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 Oktober 19.
Mitochondrial Dysfunction
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
Erzeugung eines hypomorphen Modell Propionazidämie zugänglich Gentherapie Testing. Günzel AJ, Hofherr SE, Hillestad M, Barry M, Und Weaver, Venezia S, Kraus JP, Matern D, Barry MA. Mol Ther. 2013 Kann 7. zwei: 10.1038/mt.2013.68. [Epub ahead of print]
Randy Joseph Chandler, Suma Chandrasekaran, Nuria Carrillo-Carrasco, Julien Simon Senac, Sean Hofherr, Michael A Barry, Charles Paul Venditti.
Kurzfristige Rettung von Neonatal Letalität in einem Maus-Modell Propionazidämie von Gene Therapy. Hofherr S, JS Senac, Chen CY, Palmer D, Ng P, Barry MA. Hum Gene Ther. 2008 November 24. [Epub ahead of print] PMID: 19025475
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 Juli 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 Kann;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. zwei: 10.1007/8904_2013_234. Epub 2013 Juli 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 Februar;10(1):64-8. zwei: 10.1007/s12519-014-0454-4. Epub 2014 Jan 25
Mutationsanalyse in 54 Propionazidämie Patienten.
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 Oktober 27. [Epub ahead of print]
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 Juli 29;280(30):27719-27.
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.
Propionazidämie: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. Hum Mutat. 2002 Jun;19(6):629-40.
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 ahead of print)
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.
Eur J Med Genet. 2008 August 26. [Epub ahead of print]
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 Oktober 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.
Propionazidämie: 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 Kann 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 November 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 Juli 1. (Epub ahead of print)
Inoue Y, Ohse M, Shinka T, Kuhara T
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