"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.
- Propionic Acidemia
- Acidemia, Propionic
- Acidemias, Propionic
- Propionic Acidemias
- 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
- Ketotic Glycinemia
- Ketotic Hyperglycinemia
- Hyperglycinemia, Ketotic
- Hyperglycinemias, Ketotic
- Ketotic Hyperglycinemias
- Glycinemia, Ketotic
- Glycinemias, Ketotic
- Ketotic Glycinemias
- PCC Deficiency
- Deficiencies, PCC
- Deficiency, PCC
- PCC Deficiencies
- Hyperglycinemia With Ketoacidosis And Leukopenia
- 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.