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Page 1
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). ...Except for vitam …
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic …
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 …
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. An enzyme replacement therapy is being developed using dual messenger RNA (mRNA) therapy …
Propionic acidemia (PA) is an ultrarare disorder caused by deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase ( …
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 …
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. ...The majority of tested candidate diseases were found to be suitable for inclusion in NBS programmes, while multiple acyl-CoA dehydrogenase …
Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. .. …
High Risk Stratified Neonatal Screening.
ICMR Task Force on Inherited Metabolic Disorders. ICMR Task Force on Inherited Metabolic Disorders. Indian J Pediatr. 2018 Dec;85(12):1050-1054. doi: 10.1007/s12098-017-2545-4. Epub 2018 Mar 15. Indian J Pediatr. 2018. PMID: 29542068
The yield from this sample was 31.7%, better than reported in literature owing to a more specific inclusion criteria. Methylmalonic acidemia followed by Propionic acidemia were the most common organic acidemias, while maple syrup urine disease and classic cit …
The yield from this sample was 31.7%, better than reported in literature owing to a more specific inclusion criteria. Methylmalonic acide …
Acute management of propionic acidemia.
Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. Chapman KA, et al. Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Mol Genet Metab. 2012. PMID: 22000903 Free PMC article. Review.
Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. ...On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scientists and parental group representatives to design recommendat …
Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. ...On January 28-30, 2011 in Washington …
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.
Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Haijes HA, et al. J Inherit Metab Dis. 2019 Sep;42(5):745-761. doi: 10.1002/jimd.12128. Epub 2019 Jul 9. J Inherit Metab Dis. 2019. PMID: 31119742 Review.
Despite realizing increased survival rates for propionic acidemia (PA) and methylmalonic acidemia (MMA) patients, the current therapeutic regimen is inadequate for preventing or treating the devastating complications that still can occur. ...To attain …
Despite realizing increased survival rates for propionic acidemia (PA) and methylmalonic acidemia (MMA) patients, the c …
Chronic management and health supervision of individuals with propionic acidemia.
Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. Sutton VR, et al. Mol Genet Metab. 2012 Jan;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034. Epub 2011 Sep 10. Mol Genet Metab. 2012. PMID: 21963082 Review.
Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. ...
Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often ha …
Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Reynolds E, Blanchard S, Jalazo E, Chakraborty P, Bailey DB Jr. Reynolds E, et al. J Dev Behav Pediatr. 2023 Jun-Jul 01;44(5):e379-e387. doi: 10.1097/DBP.0000000000001179. Epub 2023 Apr 20. J Dev Behav Pediatr. 2023. PMID: 37084319
Three NBS conditions (biotinidase deficiency, severe combined immunodeficiency, and propionic acidemia) are presented in detail as examples. RESULTS: Most states (88%) had Established Conditions lists to autoqualify children to EI. ...
Three NBS conditions (biotinidase deficiency, severe combined immunodeficiency, and propionic acidemia) are presented in detai …
69 results