Informational Websites on Propionic Acidemia

• The Association "La vita è un dono" (Life is a gift) in memory of Luca, Simone and Davide Carbone
• Propionic Acidemia Research Network (PARNet)
• Propionic Acidemia Foundation
• Kraus Lab Home Page - Mutation Information
• National Laboratory Network for Rare Disease Genetic Testing
• Computer Retrieval of Information on Scientific Projects (CRISP)

           Database of Federally Funded Biomedical Research Projects

• How Ketotic Hyperglycinemia Became Propionic Acidemia by Dr. Ted Hsia from the June, 2003 OAA Newsletter
• American College of Medical Genetics ACT Fact Sheet

• Parent Fact Sheet on Propionic Acidemia by STAR-G/HRSA
• Propionic Acidemia in the Genetics Home
• Propionic Acidemia Parent Guide From the California Department of Health (PDF)

Current Research Articles on Propionic Acidemia

Overview

• 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.

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 GC/MS

         J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul

         15;870(2):160-3. Epub 2008 Mar 4.

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.

Gut Mobility

• 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.

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

• 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.

Pancreatitis

• Bultron G, Seashore MR, Pashankar DS, Husain SZ.

  ecurrent Acute Pancreatitis in Propionic Acidemia.

           J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):370-1.

         (Contact OAA if interested in receiving a copy of this article).

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.  

PCCA , PCCB Mutation Analysis

• 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, Muro 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. 

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.

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.

Intestinal Motility

Hyperammoneamia

• 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.

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.

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.

Ophthalmology

• Ianchulev T, Kolin T, Moseley K, Sadun A.

Optic nerve atrophy in propionic acidemia.
Ophthalmology. 2003 Sep;110(9):1850-4.