Propionic Acidemia
"Propionic Acidemia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Descriptor ID |
D056693
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MeSH Number(s) |
C16.320.565.100.823 C18.452.648.100.823
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Concept/Terms |
Propionic Acidemia- Propionic Acidemia
- Acidemia, Propionic
- Acidemias, Propionic
- Propionic Acidemias
- Glycinemia, Ketotic
- Glycinemias, Ketotic
- Ketotic Glycinemias
- Hyperglycinemia With Ketoacidosis And Leukopenia
- Ketotic Glycinemia
- PCC Deficiency
- Deficiencies, PCC
- Deficiency, PCC
- PCC Deficiencies
- Propionicacidemia
- Propionicacidemias
- Propionyl-CoA Carboxylase Deficiency
- Carboxylase Deficiencies, Propionyl-CoA
- Carboxylase Deficiency, Propionyl-CoA
- Deficiencies, Propionyl-CoA Carboxylase
- Deficiency, Propionyl-CoA Carboxylase
- Propionyl CoA Carboxylase Deficiency
- Propionyl-CoA Carboxylase Deficiencies
- Acidemia Propionic
- Acidemia Propionics
- Propionic, Acidemia
- Propionics, Acidemia
- Ketotic Hyperglycinemia
- Hyperglycinemia, Ketotic
- Hyperglycinemias, Ketotic
- Ketotic Hyperglycinemias
Propionicaciduria- Propionicaciduria
- Propionicacidurias
- Propionic Aciduria
- Aciduria, Propionic
- Acidurias, Propionic
- Propionic Acidurias
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Below are MeSH descriptors whose meaning is more general than "Propionic Acidemia".
Below are MeSH descriptors whose meaning is more specific than "Propionic Acidemia".
This graph shows the total number of publications written about "Propionic Acidemia" by people in this website by year, and whether "Propionic Acidemia" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2011 | 1 | 0 | 1 | 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Propionic Acidemia" by people in Profiles.
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Wright EL, Baker PR. Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen. J Clin Endocrinol Metab. 2020 03 01; 105(3).
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Collard R, Majtan T, Park I, Kraus JP. Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia. Mol Cell Biol. 2018 03 15; 38(6).
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Guenzel AJ, Collard R, Kraus JP, Matern D, Barry MA. Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors. Hum Gene Ther. 2015 Mar; 26(3):153-60.
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Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, Barry MA. Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing. Mol Ther. 2013 Jul; 21(7):1316-23.
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Gr?nert SC, M?llerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-B?rgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013 Jan 10; 8:6.
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Gr?nert SC, M?llerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-B?rgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012 Jan; 35(1):41-9.
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Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, M?llerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-B?rgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Gr?nert SC, Sass JO. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan; 35(1):51-63.
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Wajner M, Goodman SI. Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies. J Bioenerg Biomembr. 2011 Feb; 43(1):31-8.
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