Počet záznamov: 1
acidémia propiónová
Č. záznamu d056693 Dátum 06.06.2025 Typ M - MESH Tematický termín acidémia propiónová Iný termín Angličtina (Pseudonym) Glycinemia, Ketotic
Angličtina (Pseudonym) Ketotic Glycinemia
Angličtina (Pseudonym) Ketotic Hyperglycinemia
Angličtina (Pseudonym) PCC Deficiency
Angličtina (Pseudonym) Propionicacidemia
Angličtina (Pseudonym) Propionyl-CoA Carboxylase Deficiency
Slovenčina (Pseudonym) acidémia propionická
Slovenčina (Pseudonym) glycinémia ketotická
Slovenčina (Pseudonym) hyperglycinémia s ketoacidózou a leukopéniou
Slovenčina (Pseudonym) hyperglycinémia ketotická
Slovenčina (Pseudonym) deficit propionyl-CoA karboxylázy
Slovenčina (Pseudonym) deficit PCC
Slovenčina (Pseudonym) nedostatok PCC
Slovenčina (Pseudonym) acidúria propionická
Slovenčina (Pseudonym) propionacidémia
Slovenčina (Pseudonym) propionacidúria
Slovenčina (Pseudonym) deficiencia propionyl-CoA karboxylázy
Pozri tiež (Novšie záhlavie) metylmalonyl-CoA-dekarboxyláza
(Skutočné meno) metylmalonyl-CoA-dekarboxyláza
MDT C16.320.565.100.823C18.452.648.100.823 Poznámka 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. 
predmetové heslo
Počet záznamov: 1