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 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 .
C18.452.076 Acid-Base Imbalance .
C18.452.076.176 Acidosis .
C18.452.076.176.652 Ketosis .
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 .
D02.522 Ketones .
D09 Carbohydrates .
D09.947 Sugars .
D09.947.875 Monosaccharides .
D09.947.875.465 Ketoses .
SP4 Environmental Health .
SP4.011 Science .
SP4.011.097 Chemistry .
SP4.011.097.036 Organic Chemicals .
SP4.011.097.036.624 Ketones .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Ketosis .
Acetonemia .
Acetonuria .
Ketoacidemia .
Ketoaciduria .
Ketonemia .
Ketonuria .
Acetonemias .
Acetonurias .
Ketoacidemias .
Ketoacidoses .
Ketoacidoses, Metabolic .
Ketoacidosis, Metabolic .
Ketoacidurias .
Ketonemias .
Ketonurias .
Ketoses, Metabolic .
Ketosis, Metabolic .
Metabolic Ketoacidoses .
Metabolic Ketoses .
Ketoacidosis .
Metabolic Ketoacidosis .
Metabolic Ketosis .
A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE). .
1.00
371578
 
Ketones .
Organic compounds containing a carbonyl group =C=O bonded to two hydrocarbon groups. .
0.79
1312793
 
Ketoses .
Sugars, Keto .
Keto Sugars .
0.63
2311
 
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. .
0.63
3132