Propionic Acidemia

Propionsyraemi

Svensk definition

Autosomal recessiv metabol störning orsakad av mutationer i metylmalonyl-CoA-dekarboxylasgener, vilket resulterar i dysfunktion hos grenade aminosyror och i metabolismen hos vissa fettsyror. Neonatal klinisk sjukdomsdebut präglas av svår metabol acidemi som åtföljs av hyperammonemi, hyperglykemi, letargi, kräkningar, lågt blodtryck och leverförstoring. De som överlever den tidiga acidemin påvisar ofta försenad utveckling och intolerans mot vissa proteiner i kosten. Om sjukdomsdebuten kommer senare påvisar patienterna mildare psykisk eller fysisk funktionsnedsättning, ibland utan metanol acidemi.

Engelsk definition

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.

Svenska synonymer

PCC-brist Propionisk acidemi Hyperglycinemi med ketoacidos och leukopeni Propionyl-CoA-karboxylasbrist

Engelska synonymer

Acidemia, Propionic Propionic Acidemias Propionyl-CoA Carboxylase Deficiency Carboxylase Deficiencies, Propionyl-CoA Carboxylase Deficiency, Propionyl-CoA Deficiencies, Propionyl-CoA Carboxylase Deficiency, Propionyl-CoA Carboxylase Propionyl CoA Carboxylase Deficiency Propionyl-CoA Carboxylase Deficiencies Acidemia Propionic Acidemia Propionics Propionic, Acidemia PCC Deficiency Deficiency, PCC PCC Deficiencies Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Ketotic Hyperglycinemia Hyperglycinemia, Ketotic Hyperglycinemias, Ketotic Ketotic Hyperglycinemias Propionicacidemia Propionicacidemias Glycinemia, Ketotic Glycinemias, Ketotic Ketotic Glycinemias Propionicaciduria Propionicacidurias Propionic Aciduria Aciduria, Propionic Propionic Acidurias