serw-MX  [xml]  

 DeCS Categories

C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.823 Propionic Acidemia .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.823 Propionic Acidemia .
D02 Organic Chemicals .
D02.241 Carboxylic Acids .
D02.241.081 Acids, Acyclic .
D02.241.081.751 Propionates .
D10 Lipids .
D10.251 Fatty Acids .
D10.251.400 Fatty Acids, Volatile .
D10.251.400.706 Propionates .
 Synonyms & Historicals
Propionates .
Propanoates .
Propanoic Acid Derivatives .
Propanoic Acids .
Propionic Acid Derivatives .
Propionic Acids .
Acids, Propanoic .
Acids, Propionic .
Derivatives, Propanoic Acid .
Derivatives, Propionic Acid .
Propionic Acids .
Derivatives of propionic acid. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxyethane structure. .
/analogs & derivatives .
/analogs and derivatives .
/derivatives .
Used with drugs and chemicals for substances that share the same parent molecule or have similar electronic structure but differ by the addition or substitution of other atoms or molecules. It is used when the specific chemical heading is not available and no appropriate group heading exists. .
Propionic Acidemia .
Acidemia Propionic .
Hyperglycinemia With Ketoacidosis And Leukopenia .
Propionic Aciduria .
Propionicaciduria .
Acidemia Propionics .
Acidemia, Propionic .
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 .
Glycinemias, Ketotic .
Hyperglycinemia, Ketotic .
Hyperglycinemias, Ketotic .
Ketotic Glycinemias .
Ketotic Hyperglycinemias .
PCC Deficiencies .
Propionic Acidemias .
Propionic Acidurias .
Propionic, Acidemia .
Propionicacidemias .
Propionicacidurias .
Propionics, Acidemia .
Propionyl CoA Carboxylase Deficiency .
Propionyl-CoA Carboxylase Deficiencies .
Glycinemia, Ketotic .
Ketotic Glycinemia .
Ketotic Hyperglycinemia .
PCC Deficiency .
Propionicacidemia .
Propionyl-CoA Carboxylase Deficiency .
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. .