PA目前的研究表 – 丙酸血症基金会

Current Research Topics in Propionic Acidemia
PA Consensus Conference

全国儿童医疗中心, 华盛顿, D.C.Reprinted from MOLECULAR GENETICS AND METABOLISM, Vol 105, 没有 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, 安德烈Gropman, 尼古拉斯·阿喵, Anupam Chakrapani, Eddie Island, Erin MacLeod, Dietrich Matern, 布列塔尼·史密斯, 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, 尼古拉斯·阿喵, V. Reid Sutton, Erin MacLeod, Kathy Stagni, Keiko Ueda, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, 布列塔尼·史密斯, Tiina Urv, Charles Venditti, Anupam Chakarapani, Andrea L. Gropman

“Acute management of propionic acidemia” Kimberly A. 查普曼一, 安德烈Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, 尼古拉斯·阿喵, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, 布列塔尼·史密斯, 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, 尼古拉斯·阿喵, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, 布列塔尼·史密斯, 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, 博士

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

Autism

在丙酸血症注册表自报的自闭症谱系障碍的患病率较高

Maria L. Cotrina, Sindy Ferreiras, 帕特里夏施耐德

首次出版: 10 December 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 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.

Gene Expression

Chapman KA1, Bush WS2, Zhang Z3.

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls .

Mol Genet Metab. 2015 Aug;115(4):174-9. doi: 10.1016/j.ymgme.2015.05.004. Epub 2015 May 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.

高氨血症

尼古拉斯·阿喵, 罗伯特·麦卡特, 叶夫根尼·Daikhin, 伊扎克·李森, 马克Yudkoff, 孟德尔塔奇曼
的N-carbamylglutamate中添加新的尿素生成和减少氨和谷氨酰胺丙酸血症
儿科, 七月 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显着提高尿素生成的同位素注册和血液生物标志物N-乙酰不足和丙酸血症.

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 十一月;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 十月 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

Generation of a Hypomorphic Model of Propionic Acidemia Amenable to Gene Therapy Testing. Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, 巴里MA. Mol Ther. 2013 May 7. doi: 10.1038/mt.2013.68. [EPUB的提前打印]

兰迪·约瑟夫·钱德勒, 苏马Chandrasekaran, 艳女·卡里略卡拉斯科, 朱利安西蒙SENAC, 肖恩Hofherr, 迈克尔的巴里, 查尔斯·保罗Venditti.

丙酸血症小鼠模型的基因治疗的新生儿致死性的短期救援. Hofherr小号, SENAC JS, 陈CY, 帕尔默ð, 吴P, 巴里MA. 坎基因治疗. 2008 十一月 24. [EPUB的提前打印] 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 七月 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 May;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. doi: 10.1016/j.jpeds.2016.09.050. Epub 2016 十月 21. McCrory NM¹, Edick MJ², Ahmad A³, Lipinski S³, Scott Schwoerer JA⁴, Zhai S², Justice K², Cameron CA², Berry SA⁵, Pena LD⁶; Inborn Errors of Metabolism Collaborative.

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 七月 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 Feb;10(1):64-8. doi: 10.1007/s12519-014-0454-4. Epub 2014 Jan 25

突变分析 54 丙酸血症患者.

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 十月 27. [EPUB的提前打印]

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 七月 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.

丙酸血症: 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的提前打印)

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的提前打印]

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 十月 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.

丙酸血症: 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 十一月 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.