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Disease Propionic Acidemia

Name Propionic Acidemia
Synonyms Acidemia Propionic | Acidemia, Propionic | Acidemia Propionics | Acidemias, Propionic | Aciduria, Propionic | Acidurias, Propionic | Carboxylase Deficiencies, Propionyl-CoA | Carboxylase Deficiency, Propionyl-CoA | Deficiencies, PCC | Deficiencies, Propionyl-CoA Carboxylase | Deficiency, PCC | Deficiency, Propionyl-CoA Carboxylase | Glycinemia, Ketotic | Glycinemias, Ketotic | Hyperglycinemia, Ketotic | Hyperglycinemias, Ketotic | Hyperglycinemia With Ketoacidosis And Leukopenia | Ketotic Glycinemia | Ketotic Glycinemias | Ketotic Hyperglycinemia | Ketotic Hyperglycinemias | PCC Deficiencies | PCC Deficiency | Propionicacidemia | Propionic, Acidemia | Propionicacidemias | Propionic Acidemias | Propionicaciduria | Propionic Aciduria | Propionicacidurias | Propionic Acidurias | Propionics, Acidemia | Propionyl-CoA Carboxylase Deficiencies | Propionyl CoA Carboxylase Deficiency | Propionyl-CoA Carboxylase Deficiency
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D056693
OMIM® ID 606054
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Propionic Acidemia Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Propionic Acidemia Has associated chemicals Has associated genes

Top ↑ Descendants

Propionic Acidemia Has associated chemicals Has associated genes
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