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2015 5
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201 results

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Page 1
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 Free PMC article. 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 …
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 …
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 ( …
Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.
Baek R, Coughlan K, Jiang L, Liang M, Ci L, Singh H, Zhang H, Kaushal N, Rajlic IL, Van L, Dimen R, Cavedon A, Yin L, Rice L, Frassetto A, Guey L, Finn P, Martini PGV. Baek R, et al. Nat Commun. 2024 May 7;15(1):3804. doi: 10.1038/s41467-024-47460-9. Nat Commun. 2024. PMID: 38714648 Free PMC article.
Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU). Herein we report results from …
Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficie …
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. ...
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U. Reischl-Hajiabadi AT, et al. J Inherit Metab Dis. 2024 Jul;47(4):674-689. doi: 10.1002/jimd.12731. Epub 2024 Apr 2. J Inherit Metab Dis. 2024. PMID: 38563533
In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated remethylation disorders (e.g., cobalamin [cbl] C and methylenetetrahydrofolate reductase [MTHFR] deficiency), …
In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemi …
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 …
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 …
Aminotransferase trends in propionic acidemia.
Silva MP, Raski CR, Charrow J, Baker JJ, Prada CE. Silva MP, et al. Am J Med Genet A. 2024 Sep;194(9):e63659. doi: 10.1002/ajmg.a.63659. Epub 2024 May 9. Am J Med Genet A. 2024. PMID: 38722054
Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. ...This study aimed to determine aminotransferase trends in individuals with propionic acidemia at a single institution. W …
Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitori …
201 results