Research & Literature

Early and late complications after liver transplantation for propionic acidemia in children: a two centers study.

Charbit-Henrion F, Lacaille F, McKiernan P, et al.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2015; (15(3)):786-91 doi:10.1111/ajt.13027.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Cazorla AG, et al.

Journal of inherited metabolic disease 2015; (38(6)):1041-57 doi:10.1007/s10545-015-9839-3.

Optic neuropathy in methylmalonic acidemia and propionic acidemia.

Martinez Alvarez L, Jameson E, Parry NR, et al.

The British journal of ophthalmology 2016; (100(1)):98-104 doi:10.1136/bjophthalmol-2015-306798.

Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography.

Liu YN, Liu TT, Fan YL, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (453()):13-20.

Mechanisms of acquired long QT syndrome in patients with propionic academia.

Bodi I, Grünert SC, Becker N, et al.

Heart rhythm 2016; (13(6)):1335-45.

Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.

Al-Dirbashi OY, McIntosh N, Chakraborty P

Journal of medical screening 2017; (24(2)):58-61 doi:10.1177/0969141316645824.

Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys.

Wen JX, Feldenberg LR, Abraham E, et al.

The Journal of pediatrics 2016; (175()):231-2.

Methylmalonic and propionic acidemias: clinical management update.

Fraser JL, Venditti CP

Current opinion in pediatrics 2016; (28(6)):682-693 doi:10.1097/MOP.0000000000000422.

Veno-Venous Extracorporeal Membrane Oxygenation for Continuous Renal Replacement in a Neonate with Propionic Acidemia.

Gander JW, Rhone ET, Wilson WG, et al.

The journal of extra-corporeal technology 2017; (49(1)):64-66.

Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.

Wilson KA, Han Y, Zhang M, et al.

American journal of physiology. Endocrinology and metabolism 2017; (313(4)):E413-E428 doi:10.1152/ajpendo.00105.2017.

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia.

Rivera-Barahona A, Alonso-Barroso E, Pérez B, et al.

Molecular genetics and metabolism 2017; (122(1-2)):43-50 doi:10.1016/j.ymgme.2017.07.009.

Autism spectrum disorders in propionic acidemia patients.

de la Bâtie CD, Barbier V, Roda C, et al.

Journal of inherited metabolic disease 2018; (41(4)):623-629 doi:10.1007/s10545-017-0070-2.

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.

Monostori P, Klinke G, Richter S, et al.

PloS one 2017; (12(9)):e0184897 doi:10.1371/journal.pone.0184897.

Dietary practices in propionic acidemia: A European survey.

Daly A, Pinto A, Evans S, et al.

Molecular genetics and metabolism reports 2017; (13()):83-89 doi:10.1016/j.ymgmr.2017.09.002.

Propionyl-CoA carboxylase - A review.

Wongkittichote P, Ah Mew N, Chapman KA

Molecular genetics and metabolism 2017; (122(4)):145-152 doi:10.1016/j.ymgme.2017.10.002.

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.

Myles JG, Manoli I, Venditti CP

Current opinion in clinical nutrition and metabolic care 2018; (21(1)):42-48 doi:10.1097/MCO.0000000000000428.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

AlGhamdi A, Alrifai MT, Al Hammad AI, et al.

Journal of child neurology 2018; (33(11)):713-717 doi:10.1177/0883073818786157.

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Rivera-Barahona A, Navarrete R, García-Rodríguez R, et al.

Molecular genetics and metabolism 2018; (125(3)):266-275 doi:10.1016/j.ymgme.2018.09.008.

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Häberle J, Chakrapani A, Ah Mew N, Longo N

Orphanet journal of rare diseases 2018; (13(1)):219 doi:10.1186/s13023-018-0963-7.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, et al.

Journal of inherited metabolic disease 2019; (42(6)):1162-1175 doi:10.1002/jimd.12066.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, et al.

Molecular genetics and metabolism 2019; (126(4)):397-405 doi:10.1016/j.ymgme.2019.02.003.

Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children.

Aygun F, Varol F, Aktuglu-Zeybek C, et al.

Children (Basel, Switzerland) 2019; (6(4)) doi:10.3390/children6040053.

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

Nashabat M, Obaid A, Al Mutairi F, et al.

BMC pediatrics 2019; (19(1)):195 doi:10.1186/s12887-019-1571-y.

Chronic kidney disease in propionic acidemia.

Shchelochkov OA, Manoli I, Sloan JL, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(12)):2830-2835 doi:10.1038/s41436-019-0593-z.

Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy.

Almuqbil M, Chinsky JM, Srivastava S

Child neurology open 2019; (6()):2329048X19873242 doi:10.1177/2329048X19873242.

Liver Transplantation in Children With Propionic Acidemia: Medium-Term Outcomes.

Curnock R, Heaton ND, Vilca-Melendez H, et al.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2020; (26(3)):419-430 doi:10.1002/lt.25679.

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Pillai NR, Stroup BM, Poliner A, et al.

Molecular genetics and metabolism 2019; (128(4)):431-443 doi:10.1016/j.ymgme.2019.11.001.

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.

Choe JY, Jang KM, Min SY, et al.

Journal of Korean medical science 2019; (34(47)):e303 doi:10.3346/jkms.2019.34.e303.

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.

Wang H, Meng L, Li W, et al.

Clinica chimica acta; international journal of clinical chemistry 2020; (502()):153-158 doi:10.1016/j.cca.2019.12.021.

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.

Kör D, Şeker-Yılmaz B, Bulut FD, et al.

The Turkish journal of pediatrics 2019; (61(3)):330-336.

Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

Kovacevic A, Garbade SF, Hoffmann GF, et al.

Molecular genetics and metabolism 2020; (130(1)):41-48 doi:10.1016/j.ymgme.2020.02.004.

Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.

Kido J, Matsumoto S, Nakamura K

Case reports in pediatrics 2020; (2020()):4709548 doi:10.1155/2020/4709548.

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.

Yap S, Vara R, Morais A

Advances in therapy 2020; (37(5)):1866-1896 doi:10.1007/s12325-020-01305-1.

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.

Rossi C, Cicalini I, Rizzo C, et al.

International journal of environmental research and public health 2020; (17(10)) doi:10.3390/ijerph17103601.

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.

Collado MS, Armstrong AJ, Olson M, et al.

Molecular genetics and metabolism 2020; (130(3)):183-196 doi:10.1016/j.ymgme.2020.05.003.

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.

Wang HR, Liu YQ, He XL, et al.

BMC medical genetics 2020; (21(1)):166 doi:10.1186/s12881-020-01102-1.

Generation of isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.

Pournasr B, Duncan SA

Stem cell research 2020; (48()):101953 doi:10.1016/j.scr.2020.101953.

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Dai M, Xiao B, Zhang H, et al.

Orphanet journal of rare diseases 2020; (15(1)):276 doi:10.1186/s13023-020-01539-w.

Liver Transplantation for Propionic Acidemia: Evidence From a Systematic Review and Meta-analysis.

Zhou GP, Jiang YZ, Wu SS, et al.

Transplantation 2021; (105(10)):2272-2282 doi:10.1097/TP.0000000000003501.

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

Wenger O, Brown M, Smith B, et al.

Molecular genetics and metabolism 2020; (131(3)):316-324 doi:10.1016/j.ymgme.2020.09.006.

Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.

Tian Y, Wang G, Shi W, Bai X

BMC pregnancy and childbirth 2020; (20(1)):689 doi:10.1186/s12884-020-03391-z.

Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.

Sivananthan S, Hadžić N, Dhawan A, et al.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2021; (21(4)):1637-1640 doi:10.1111/ajt.16400.

Extracorporeal Ammonia Clearance for Hyperammonemia in Critically Ill Patients: A Scoping Review.

Naorungroj T, Yanase F, Eastwood GM, et al.

Blood purification 2021; (50(4-5)):453-461 doi:10.1159/000512100.

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.

Yang X, Li D, Tu C, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (519()):18-25 doi:10.1016/j.cca.2021.03.019.

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Pajares S, Arranz JA, Ormazabal A, et al.

Orphanet journal of rare diseases 2021; (16(1)):195 doi:10.1186/s13023-021-01784-7.

Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report.

Rodriguez LI, Tainsh EJ, Varga E, Mavarez AC

Journal of investigative medicine high impact case reports 2021; (9()):23247096211015025 doi:10.1177/23247096211015025.

Long term follow-up of the dietary intake in propionic acidemia.

Mobarak A, Stockler S, Salvarinova R, et al.

Molecular genetics and metabolism reports 2021; (27()):100757 doi:10.1016/j.ymgmr.2021.100757.

Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.

Sibulo L, Kogel W, Landolt L, et al.

Journal of medical cases 2021; (12(4)):152-156 doi:10.14740/jmc3628.

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Tajima G, Kagawa R, Sakura F, et al.

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030035.

Dietary management and growth outcomes in children with propionic acidemia: A natural history study.

Saleemani H, Egri C, Horvath G, et al.

JIMD reports 2021; (61(1)):67-75 doi:10.1002/jmd2.12234.

Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation.

Bordugo A, Salvetti E, Rodella G, et al.

Microorganisms 2021; (9(12)) doi:10.3390/microorganisms9122599.

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

Stanescu S, Belanger-Quintana A, Fernandez-Felix BM, et al.

Amino acids 2022; (54(5)):777-786 doi:10.1007/s00726-022-03128-6.

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.

Beletić A, Tijanić A, Chrastina P, et al.

Drug metabolism and personalized therapy 2022; (37(3)):271-275 doi:10.1515/dmpt-2021-0218.

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.

Li Y, Wang M, Huang Z, et al.

BMC medical genomics 2022; (15(1)):59 doi:10.1186/s12920-022-01202-2.

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.

Liu Y, Chen Z, Dong H, et al.

Orphanet journal of rare diseases 2022; (17(1)):135 doi:10.1186/s13023-022-02271-3.

A Rare Case of Propionic Acidemia in a Six Months Female Child.

Irum S, Rehman A, Aamir M, et al.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2022; (32(8)):S180-S182 doi:10.29271/jcpsp.2022.Supp2.S180.

Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.

Kovacevic A, Garbade SF, Hörster F, et al.

Molecular genetics and metabolism 2022; (137(4)):349-358 doi:10.1016/j.ymgme.2022.10.007.

Combined heart and liver transplantation in a patient supported by left ventricular assist device (LVAD) with propionic acidemia.

Lotan D, DeFilippis EM, Oren D, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2023; (33(3)):667-670 doi:10.1016/j.numecd.2022.12.022.

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.

Chakrapani A, Stojanovic J, Vara R, et al.

Journal of inherited metabolic disease 2023; (46(3)):466-481 doi:10.1002/jimd.12613.

Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.

Barman H, Sikirica V, Carlson K, et al.

Molecular genetics and metabolism 2023; (140(3)):107695 doi:10.1016/j.ymgme.2023.107695.

Unusual Presentation of Propionic Acidemia Mimicking Botulism in an Infant: A Case Report and Literature Review.

Boland AC, Wind A, Alkhoujah M

Cureus 2024; (16(8)):e66870 doi:10.7759/cureus.66870.

Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ).

Sikirica V, Schwartz EJ, Vockley J, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108577 doi:10.1016/j.ymgme.2024.108577.

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.

Yap S, Gasperini S, Matsumoto S, Feillet F

Orphanet journal of rare diseases 2024; (19(1)):464 doi:10.1186/s13023-024-03468-4.

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Akar HT, Kahraman AB, Yıldız Y, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(4)):399-405 doi:10.1515/jpem-2024-0366.

Metabolic decompensation events among patients with propionic acidemia across the US: A large electronic medical record data study.

Sikirica V, Banerjee G, Perera S, et al.

Molecular genetics and metabolism 2025; (145(2)):109111 doi:10.1016/j.ymgme.2025.109111.

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Fels-Palesandro H, Hörster F, Haas D, et al.

Journal of inherited metabolic disease 2025; (48(6)):e70101 doi:10.1002/jimd.70101.

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Margoses D, Imbard A, Pontoizeau C, et al.

Journal of inherited metabolic disease 2026; (49(1)):e70114 doi:10.1002/jimd.70114.

Liver transplantation for propionic acidemia: Survival and metabolic outcomes.

Bo X, Zhang Y, Ge J, et al.

Hepatology communications 2026; (10(2)) doi:10.1097/HC9.0000000000000867.

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Meijer NWF, Huidekoper HH, Koop K, et al.

International journal of neonatal screening 2025; (12(1)) doi:10.3390/ijns12010001.

Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature.

Walther BK, Murray BM, Pandiyan P, et al.

JIMD reports 2026; (67(2)):e70073 doi:10.1002/jmd2.70073.

Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria.

Moysset B, Hoebeke C, Chabrol B, et al.

Journal of clinical medicine 2026; (15(4)) doi:10.3390/jcm15041393.

[Application of percutaneous endoscopic gastrostomy in children with methylmalonic acidemia or propionic acidemia complicated by feeding difficulties: a case series of 7 patients].

Li WY, Zeng YM, Zhang JY, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2026; (28(3)):330-335 doi:10.7499/j.issn.1008-8830.2507104.

Propionic acidemia in Mexico: Clinical and genotypic spectrum.

Vela-Amieva M, Alcántara-Ortigoza MA, Guillén-López S, et al.

Molecular genetics and metabolism reports 2026; (47()):101311 doi:10.1016/j.ymgmr.2026.101311.

Loss of Propionyl-CoA Carboxylase Reprograms Hepatic Metabolism by Suppressing Mitochondrial Pyruvate Carboxylation and Fatty Acid Oxidation.

Lu F, Paiboonrungruang C, He W, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.04.13.718201.

Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.

Mekdade T, Bérat CM, Schiff M, et al.

Journal of inherited metabolic disease 2026; (49(4)):e70216 doi:10.1002/jimd.70216.

Propionic Acidemia: An Ambispective Cohort Study on Phenotypic and Genotypic Characteristics at a Tertiary Center in Vietnam.

Quang DM, Vu CD, Nguyen KN, et al.

Genes 2026; (17(9)) doi:10.3390/genes17091099.