Current Research Articles on Propionic Acidemia
Major Breakthrough on Propionic Acidemia Research
PaVe-GT: Paving the Way for Rare Disease Gene Therapies
Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia
PaVe-GT: Paving the Way for Rare Disease Gene Therapies
Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia
Overview
- Propionic Acidemia Consensus Conference Summary
- Natural History of Propionic Acidemia
- Neurologic Considerations in Propionic Acidemia
- Acute Management of Propionic Acidemia
- Chronic Management and Health Supervision of Individuals with Propionic Acidemia
- 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
Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondarymitochondrial dysfunction as an underlying pathophysiological mechanism
J Pediatr. 2007 Feb;150(2):192-7, 197.e1. Coincidence of Long QT Syndrome and Propionic Acidemia
Pediatr Cardiol. 2007 Dec 5; Coincidence of long QT syndrome and propionic acidemia.propionate-induced_changes_in_cardiac_metabolism_notably_coa_trapping_are_not_altered_by_l-carnitine.pdf
Pediatr Cardiol. 2006 Jan-Feb;27(1):160-1. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.
Mol Genet Metab. 2005 Aug;85(4):286-90.
Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondarymitochondrial dysfunction as an underlying pathophysiological mechanism
- J. Baruteau a,⁎, I. Hargreaves b, S. Krywawychc, A. Chalasani b, J.M. Land b, J.E. Davison a, M.K. Kwoka,
G. Christov d, A. Karimova d, M. Ashworthe, G. Andersone, H. Pruntyc, S. Rahman a,f, S. Grünewald a,f
J Pediatr. 2007 Feb;150(2):192-7, 197.e1. Coincidence of Long QT Syndrome and Propionic Acidemia
- B. Kakavand, V.A. Schroeder, T.G. Di Sessa
Pediatr Cardiol. 2007 Dec 5; Coincidence of long QT syndrome and propionic acidemia.propionate-induced_changes_in_cardiac_metabolism_notably_coa_trapping_are_not_altered_by_l-carnitine.pdf
Pediatr Cardiol. 2006 Jan-Feb;27(1):160-1. 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 The importance of gut motility in the metabolic control of propionic
acidemia.
J Pediatr. 2004 Apr;144(4):532-5.
acidemia.
J Pediatr. 2004 Apr;144(4):532-5.
Liver Transplantation
Am J Transplant. 2007 Sep;7(9):2200-3. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review.
Pediatr Transplant. 2006 Nov;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 Aug;6(4):295-300.
- Liver Transplantation in Children With Propionic Acidemia: Medium-Term Outcomes
- Tzu-Hung Chu1,13, Yin-Hsiu Chien2 , Hsiang-Yu Lin3,4, Hsuan-Chieh Liao5 , Huey-Jane Ho6 , Chih-Jou Lai7 , Chuan-Chi Chiang5 , Niang-Cheng Lin8 , Chia-Feng Yang1,9, Wuh-Liang Hwu2 , Ni-Chung Lee2 , Shuan-Pei Lin3 , Chin-Su Liu8 , Rey-Heng Hu10, Ming-Chih Ho10 and Dau-Ming Niu1,11
Am J Transplant. 2007 Sep;7(9):2200-3. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review.
Pediatr Transplant. 2006 Nov;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 Aug;6(4):295-300.
Mitochondrial DysfunctionSecondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
Biochem J. 2006 Aug 15;398(1):107-12.
Biochem J. 2006 Aug 15;398(1):107-12.
Mouse Model of PA / Gene TherapyFatal 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.Polyethylene glycol modification of adenovirus reduces platelet activation, endothelial cell activation, and thrombocytopenia.
Hum Gene Ther. 2007 Sep;18(9):837-48.
J Biol Chem. 2001 Sep 21;276(38):35995-9. Epub 2001 Jul 18.Polyethylene glycol modification of adenovirus reduces platelet activation, endothelial cell activation, and thrombocytopenia.
Hum Gene Ther. 2007 Sep;18(9):837-48.
Pancreatitis
(Contact OAA if interested in receiving a copy of this article).
- Bultron G, Seashore MR, Pashankar DS, Husain SZ.ecurrent Acute Pancreatitis in Propionic Acidemia.
(Contact OAA if interested in receiving a copy of this article).
PCC EnzymeCharacterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
J Biol Chem. 2005 Jul 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.Propionic acidemia: 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.
J Biol Chem. 2005 Jul 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.Propionic acidemia: 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.
PCCA , PCCB Mutation AnalysisPropionic and Methylmalonic Acidemia: Antisense Therapeutics for Intronic ariations Causing Aberrantly Spliced Messenger RNA.
Am J Hum Genet. 2007 Oct 26;81(6)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.Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab. 2003 Jan;78(1):59-67.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.
Mol Genet Metab. 2001 Sep-Oct;74(1-2):238-47.Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Hum Mutat. 1999;14(4):275-82.
Am J Hum Genet. 2007 Oct 26;81(6)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.Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab. 2003 Jan;78(1):59-67.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.
Mol Genet Metab. 2001 Sep-Oct;74(1-2):238-47.Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Hum Mutat. 1999;14(4):275-82.
MetabolomicsMetabolomics identifies perturbations in human disorders of propionate metabolism.
Clin Chem. 2007 Dec;53(12):2169-76. Epub 2007 Oct 19.
Clin Chem. 2007 Dec;53(12):2169-76. Epub 2007 Oct 19.
Dietary ModificationsImproved 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.
Mol Genet Metab. 2003 Sep-Oct;80(1-2):181-8.
HyperammoneamiaMetabolic changes associated with hyperammonemia in patients with propionic acidemia.
Mol Genet Metab. 2006 Jun;88(2):123-30.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.
Mol Genet Metab. 2006 Jun;88(2):123-30.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.
NeurologyPropionate increases neuronal histone acetylation, but is metabolized oxidatively by glia. Relevance for propionic acidemia.
J Neurochem. 2007 May;101(3):806-14.
J Neurochem. 2007 May;101(3):806-14.
DermatologyPropionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis.
Pediatr Dermatol. 2007 Sep-Oct;24(5):508-10.
Pediatr Dermatol. 2007 Sep-Oct;24(5):508-10.
OphthalmologyOptic nerve atrophy in propionic acidemia.
Ophthalmology. 2003 Sep;110(9):1850-4.
Ophthalmology. 2003 Sep;110(9):1850-4.