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Overview
Mutation analysis in 54 propionic acidemia patients.
J Inherit Metab Dis. 2011 Oct 27. [Epub ahead of print]
Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer 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-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO.
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.
Anesthesia
H. Eugene Harker, MD, PhD, John D. Emhardt, MD, and Bryan E. Hainline, MD PhD
Propionic Acidemia in a Four-Month-Old Male: A Case Study and Anesthetic Implications
Anesthesia & Analgesia 2000; 91:309-311.
Cardiology
Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D.
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.
J Pediatr. 2007 Feb;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 Aug;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.
Hearing
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]
HNO, 2008 Jan;56(1):37-42.
Hyperammonemia
Nicholas Ah Mew, Robert McCarter, Yevgeny Daikhin, Itzhak Nissim, Marc Yudkoff, and Mendel Tuchman
N-carbamylglutamate Augments Ureagenesis and Reduces Ammonia and Glutamine in Propionic Acidemia
Pediatrics, Jul 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 markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.
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 Nov;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 Aug;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 Oct 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 Aug 15;398(1):107-12.
Mouse Model of PA / Gene Therapy
Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia
Randy Joseph Chandler, Suma Chandrasekaran, Nuria Carrillo-Carrasco, Julien Simon Senac, Sean Hofherr, Michael A Barry, Charles Paul Venditti.
Short-term Rescue of Neonatal Lethality in a Mouse Model of Propionic Acidemia by Gene Therapy. Hofherr S, Senac JS, Chen CY, Palmer D, Ng P, Barry MA. Hum Gene Ther. 2008 Nov 24. [Epub ahead of print] 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 Jul 18.
Hofherr SE, Mok H, Gushiken FC, Lopez JA, Barry MA.
Polyethylene glycol modification of adenovirus reduces platelet activation, endothelial cell activation, and thrombocytopenia.
Hum Gene Ther. 2007 Sep;18(9):837-48.
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 May;101(3):806-14.
Ophthalmology
Ianchulev T, Kolin T, Moseley K, Sadun A.
Optic nerve atrophy in propionic acidemia.
Ophthalmology. 2003 Sep;110(9):1850-4.
PCC Enzyme
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 Jul 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. PCCA , PCCB Mutation Analysis
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.
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 Aug 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 Oct 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 Aug;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 May 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 Nov 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 Jul 1. (Epub ahead of print)
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.
Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia.
Inherit Metab Dis. 1989;12(1):86-8.
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