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