Počet záznamov: 1

acidémia propiónová

Heslo	acidémia propiónová
Heslo anglicky	Propionic Acidemia
Odkazy	acidémia propionická glycinémia ketotická hyperglycinémia s ketoacidózou a leukopéniou hyperglycinémia ketotická deficit propionyl-CoA karboxylázy deficit PCC nedostatok PCC acidúria propionická propionacidémia propionacidúria deficiencia propionyl-CoA karboxylázy
Angl. X odkazy	Glycinemia, Ketotic Ketotic Glycinemia Ketotic Hyperglycinemia PCC Deficiency Propionicacidemia Propionyl-CoA Carboxylase Deficiency
Vysvetľujúca pozn. v angl.	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.
Pozri aj (FX) v slov.	metylmalonyl-CoA-dekarboxyláza
Pozri aj (FX) v angl.	Methylmalonyl-CoA Decarboxylase
Odkazy	(1) - ČLÁNKY
	(1) - heslo MeSH
	(1) - CiBaMed

predmetové heslo

Počet záznamov: 1