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2013 2
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). ...
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid …
Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.
Attarwala H, Lumley M, Liang M, Ivaturi V, Senn J. Attarwala H, et al. Nucleic Acid Ther. 2023 Apr;33(2):141-147. doi: 10.1089/nat.2022.0036. Epub 2022 Dec 27. Nucleic Acid Ther. 2023. PMID: 36577040 Free PMC article.
Propionic acidemia (PA) is an ultrarare disorder caused by deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase (PCC), composed of PCCA and PCCB subunits. ...
Propionic acidemia (PA) is an ultrarare disorder caused by deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase ( …
Propionyl-CoA carboxylase - A review.
Wongkittichote P, Ah Mew N, Chapman KA. Wongkittichote P, et al. Mol Genet Metab. 2017 Dec;122(4):145-152. doi: 10.1016/j.ymgme.2017.10.002. Epub 2017 Oct 7. Mol Genet Metab. 2017. PMID: 29033250 Free PMC article. Review.
Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, vomiting and sometimes coma and death if not treated. Individuals with propio …
Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual pr …
Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y. Zhang Y, et al. Orphanet J Rare Dis. 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. Orphanet J Rare Dis. 2023. PMID: 37689673 Free PMC article. Review.
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...
Pathophysiological mechanisms of complications associated with propionic acidemia.
Marchuk H, Wang Y, Ladd ZA, Chen X, Zhang GF. Marchuk H, et al. Pharmacol Ther. 2023 Sep;249:108501. doi: 10.1016/j.pharmthera.2023.108501. Epub 2023 Jul 22. Pharmacol Ther. 2023. PMID: 37482098 Review.
Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the mitochondrial enzyme, propionyl-CoA carboxylase (PCC), which is responsible for converting propionyl-CoA to methylmalonyl-CoA for further metabolism in the tricarboxylic acid cycle. . …
Propionic acidemia (PA) is a genetic metabolic disorder caused by mutations in the mitochondrial enzyme, propionyl-CoA carboxy …
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL. Martinez Alvarez L, et al. Br J Ophthalmol. 2016 Jan;100(1):98-104. doi: 10.1136/bjophthalmol-2015-306798. Epub 2015 Jul 24. Br J Ophthalmol. 2016. PMID: 26209586 Review.
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. ...
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, mani …
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.
Jiang YZ, Shi Y, Shi Y, Gan LX, Kong YY, Zhu ZJ, Wang HB, Sun LY. Jiang YZ, et al. Orphanet J Rare Dis. 2019 Dec 16;14(1):292. doi: 10.1186/s13023-019-1268-1. Orphanet J Rare Dis. 2019. PMID: 31842933 Free PMC article.
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. ...
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of meta …
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Zhao C, Wang Y, Yang H, Wang S, Tang MC, Cyr D, Parente F, Allard P, Waters P, Furtos A, Yang G, Mitchell GA. Zhao C, et al. Mol Genet Metab. 2022 Jan;135(1):47-55. doi: 10.1016/j.ymgme.2021.11.011. Epub 2021 Nov 27. Mol Genet Metab. 2022. PMID: 34896004
Propionic acidemia (PA) is a severe autosomal recessive metabolic disease caused by deficiency of propionyl-CoA carboxylase (PCC). ...
Propionic acidemia (PA) is a severe autosomal recessive metabolic disease caused by deficiency of propionyl-CoA carboxylase (P …
Biomarkers for drug development in propionic and methylmalonic acidemias.
Longo N, Sass JO, Jurecka A, Vockley J. Longo N, et al. J Inherit Metab Dis. 2022 Mar;45(2):132-143. doi: 10.1002/jimd.12478. Epub 2022 Jan 26. J Inherit Metab Dis. 2022. PMID: 35038174 Free PMC article. Review.
There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of PA and MMA that cou …
There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic a …
194 results