PA Elenco di ricerca corrente – Acidemia Fondazione propionico

Current Research Topics in Propionic Acidemia
PA Consensus Conference

Nazionale per bambini Medical Center, Washington, D.C.Reprinted from MOLECULAR GENETICS AND METABOLISM, Vol 105, No 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, Nicola 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, Nicola 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 un, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicola 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, Nicola 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, Dottorato di Ricerca

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, Dottorato di Ricerca, John D. Emhardt, MD, and Bryan E. Hainline, MD PhD Anesthesia & Analgesia 2000; 91:309-311.

A Child with Propionic Acidemia Undergoing Dental Restorations: A Case Report

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 e Gaab-Soo Kim
Department of Anesthesiology and Pain Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Autism

Alta prevalenza di disturbi dello spettro autistico auto-riferito nel Acidemia Registro propionico

Maria L. Cotrina, Sindy Ferreiras, Patricia Schneider

pubblicato la prima volta: 10 dicembre 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 Febbraio;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.

Clinico, patologico, e studi biochimici in un paziente con acidemia propionico e cardiomiopatia fatale.
Mol Genet Metab. 2005 Agosto;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.

Espressione genica in linee cellulari da pazienti acidemia propionico, genitori portatori, e controlli .

Mol Genet Metab. 2015 Agosto;115(4):174-9. due: 10.1016/j.ymgme.2015.05.004. Epub 2015 Può 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.

Iperammoniemia

Nicola Ah Mew, Robert McCarter, Yevgeny Daikhin, Itzhak Nissim, Marc Yudkoff, e Mendel Tuchman
N-carbamylglutamate Potenziati Ureagenesis e riduce ammoniaca e glutammina in Acidemia propionico
Pediatria, Luglio 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 migliora notevolmente ureagenesis in N-acetilglutammato carenza e propionico acidemia misurata mediante incorporazione isotopica e biomarcatori nel sangue.

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 Novembre;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 Agosto;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 Ottobre 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 Agosto 15;398(1):107-12.

Mouse Model of PA / Gene Therapy

Generazione di un modello di hypomorphic propionico Acidemia suscettibili di terapia genica Testing. Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, Barry MA. Mol Ther. 2013 Può 7. due: 10.1038/mt.2013.68. [Epub ahead of print]

Virus adeno-associato sierotipo 8 (AAV8) Trasferimento del gene Rescues un neonatale modello murino di Lethal Acidemia propionico

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

A breve termine di salvataggio di letalità neonatale in un modello murino di Acidemia propionico di Terapia Genica. Hofherr S, JS Senac, Chen CY, Palmer D, Ng P, Barry MA. Hum Gene Ther. 2008 Novembre 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 Luglio 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 Può;101(3):806-14.

Newborn Screening

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. J Pediatr. 2017 Jan;180:200-205.e8. due: 10.1016/j.jpeds.2016.09.050. Epub 2016 Ottobre 21. McCrory NM¹, Edick MJ², Ahmad A³, Lipinski S³, Scott Schwoerer JA⁴, Zhai S², Justice K², Cameron CA², Berry SA⁵, Pena LD⁶; Errori congeniti del metabolismo Collaborative,,en,Sadun A. Oftalmologia,,en,Wasant P.,,jw,Sass JO. J Inherit Metab Dis,,en.

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. due: 10.1007/8904_2013_234. Epub 2013 Luglio 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 Febbraio;10(1):64-8. due: 10.1007/s12519-014-0454-4. Epub 2014 Jan 25

Mutazione analisi in 54 pazienti propionico 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 Ottobre 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 Luglio 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.

Propionico 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 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 Agosto 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 Ottobre 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 Agosto;115(3):239-47.

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

Propionico 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 Può 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 Novembre 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.