Number of the records: 1
acidémia propiónová
Record number d056693 Date 06.06.2025 Type M - MESH Topical term acidémia propiónová Other term English (Pseudonym) Glycinemia, Ketotic
English (Pseudonym) Ketotic Glycinemia
English (Pseudonym) Ketotic Hyperglycinemia
English (Pseudonym) PCC Deficiency
English (Pseudonym) Propionicacidemia
English (Pseudonym) Propionyl-CoA Carboxylase Deficiency
Slovak (Pseudonym) acidémia propionická
Slovak (Pseudonym) glycinémia ketotická
Slovak (Pseudonym) hyperglycinémia s ketoacidózou a leukopéniou
Slovak (Pseudonym) hyperglycinémia ketotická
Slovak (Pseudonym) deficit propionyl-CoA karboxylázy
Slovak (Pseudonym) deficit PCC
Slovak (Pseudonym) nedostatok PCC
Slovak (Pseudonym) acidúria propionická
Slovak (Pseudonym) propionacidémia
Slovak (Pseudonym) propionacidúria
Slovak (Pseudonym) deficiencia propionyl-CoA karboxylázy
See also (Later heading) metylmalonyl-CoA-dekarboxyláza
(Skutočné meno) metylmalonyl-CoA-dekarboxyláza
UDC C16.320.565.100.823C18.452.648.100.823 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. 
subject heading
Number of the records: 1