DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Albinism [C16.320.565.100.102] Albinism Alkaptonuria [C16.320.565.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C16.320.565.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C16.320.565.100.480] Hyperhomocysteinemia Hyperlysinemias [C16.320.565.100.544] Hyperlysinemias Maple Syrup Urine Disease [C16.320.565.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C16.320.565.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C16.320.565.100.766] Phenylketonurias Prolidase Deficiency [C16.320.565.100.794] Prolidase Deficiency Propionic Acidemia [C16.320.565.100.823] Propionic Acidemia Tyrosinemias [C16.320.565.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C16.320.565.100.940] Urea Cycle Disorders, Inborn DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Albinism [C18.452.648.100.102] Albinism Alkaptonuria [C18.452.648.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C18.452.648.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C18.452.648.100.480] Hyperhomocysteinemia Hyperlysinemias [C18.452.648.100.544] Hyperlysinemias Maple Syrup Urine Disease [C18.452.648.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.648.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C18.452.648.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C18.452.648.100.766] Phenylketonurias Propionic Acidemia [C18.452.648.100.823] Propionic Acidemia Tyrosinemias [C18.452.648.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C18.452.648.100.940] Urea Cycle Disorders, Inborn

Propionic Acidemia - Preferred

Concept UI	M0528609
Scope note	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.
Preferred term	Propionic Acidemia
Entry term(s)	Acidemia Propionic Acidemia Propionics Acidemia, Propionic Acidemias, 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 With Ketoacidosis And Leukopenia Hyperglycinemia, Ketotic Hyperglycinemias, Ketotic Ketotic Glycinemia Ketotic Glycinemias Ketotic Hyperglycinemia Ketotic Hyperglycinemias PCC Deficiencies PCC Deficiency Propionic Acidemias Propionic, Acidemia Propionicacidemia Propionicacidemias Propionics, Acidemia Propionyl CoA Carboxylase Deficiency Propionyl-CoA Carboxylase Deficiencies Propionyl-CoA Carboxylase Deficiency

Propionicaciduria - Narrower

Concept UI	M0529597
Preferred term	Propionicaciduria
Entry term(s)	Aciduria, Propionic Acidurias, Propionic Propionic Aciduria Propionic Acidurias Propionicacidurias