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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 …
New insights into the pathophysiology of methylmalonic acidemia.
Head PE, Meier JL, Venditti CP. Head PE, et al. J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617. J Inherit Metab Dis. 2023. PMID: 37078237 Free PMC article. Review.
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. ...While earlier studies have focused on the potential direct toxicity of metabolites such as methylmalonic and pro …
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and …
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple syrup urine …
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guid …
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Pillai NR, et al. Mol Genet Metab. 2019 Dec;128(4):431-443. doi: 10.1016/j.ymgme.2019.11.001. Epub 2019 Nov 7. Mol Genet Metab. 2019. PMID: 31757659 Free PMC article. Review.
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. ...
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinic …
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. ...
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 …
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 metabolis …
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 t …
There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic a …
Methylmalonic and propionic acidemias: clinical management update.
Fraser JL, Venditti CP. Fraser JL, et al. Curr Opin Pediatr. 2016 Dec;28(6):682-693. doi: 10.1097/MOP.0000000000000422. Curr Opin Pediatr. 2016. PMID: 27653704 Free PMC article. Review.
PURPOSE OF REVIEW: Recent clinical studies and management guidelines for the treatment of the organic acidopathies methylmalonic acidemia (MMA) and propionic acidemia address the scope of interventions to maximize health and quality of life. ...SUMMARY: Manag …
PURPOSE OF REVIEW: Recent clinical studies and management guidelines for the treatment of the organic acidopathies methylmalonic acidemia …
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Vockley J, Burton B, Jurecka A, Ganju J, Leiro B, Zori R, Longo N. Vockley J, et al. Mol Genet Metab. 2023 Jul;139(3):107612. doi: 10.1016/j.ymgme.2023.107612. Epub 2023 May 21. Mol Genet Metab. 2023. PMID: 37245378 Free article. Review.
Here, we review strategies for the successful development of a clinical trial to evaluate treatment response in propionic and methylmalonic acidemias. Specifically, we discuss crucial decisions that may significantly impact success of the study, including patient selection …
Here, we review strategies for the successful development of a clinical trial to evaluate treatment response in propionic and methylm …
61 results