"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
|
MeSH Number(s) |
C16.320.565.100.823 C18.452.648.100.823
|
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
|
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 |
---|
2019 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Propionic Acidemia" by people in Profiles.
-
COVID-19 in a child with severe propionic acidemia. Pediatr Int. 2021 05; 63(5):606-607.
-
Management of COVID-19 infection in organic acidemias. Am J Med Genet A. 2021 06; 185(6):1854-1857.
-
SARS-CoV-2 infection in a patient with propionic acidemia. Orphanet J Rare Dis. 2020 10 28; 15(1):306.
-
Minimally Invasive Treatment of Metabolic Decompensation Due to Portal Steal in Auxiliary Liver Transplantation. Liver Transpl. 2019 06; 25(6):960-963.
-
The Role of Liver Transplantation in Propionic Acidemia. Liver Transpl. 2019 01; 25(1):176-177.