"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
- Glycinemia, Ketotic
- Glycinemias, Ketotic
- Ketotic Glycinemias
- Hyperglycinemia With Ketoacidosis And Leukopenia
- Ketotic Glycinemia
- PCC Deficiency
- Deficiencies, PCC
- Deficiency, PCC
- PCC Deficiencies
- 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
- 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".
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Below are the most recent publications written about "Propionic Acidemia" by people in Profiles.
Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA. Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A?>?G (p.Asn536Asp) variant propionic acidemia. Mol Genet Metab. 2020 11; 131(3):316-324.