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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.

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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.


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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.
Bar chart showing 3 publications over 3 distinct years, with a maximum of 1 publications in 2011 and 2015 and 2018
To see the data from this visualization as text, click here.

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