What does propionic acidemia mean?
Definitions for propionic acidemia
pro·pi·onic acidemi·a
This dictionary definitions page includes all the possible meanings, example usage and translations of the word propionic acidemia.
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Wikidata
Propionic acidemia
Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. The disorder presents in the early neonatal period with progressive encephalopathy. Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke. Propionic Acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.
U.S. National Library of Medicine
Propionic Acidemia
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.
Numerology
Chaldean Numerology
The numerical value of propionic acidemia in Chaldean Numerology is: 8
Pythagorean Numerology
The numerical value of propionic acidemia in Pythagorean Numerology is: 7
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"propionic acidemia." Definitions.net. STANDS4 LLC, 2025. Web. 19 Mar. 2025. <https://www.definitions.net/definition/propionic+acidemia>.
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