Propionic Acidemia


Acidemia Propionic

Acidemia Propionics

Acidemia, Propionic

Acidemias, Propionic

Aciduria, Propionic

Acidurias, Propionic

Carboxylase Deficiencies, Propionyl-CoA

Carboxylase Deficiency, Propionyl-CoA

Deficiencies, PCC

Deficiencies, Propionyl-CoA Carboxylase

Deficiency, PCC

Deficiency, Propionyl-CoA Carboxylase

Glycinemia, Ketotic

Glycinemias, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Hyperglycinemia, Ketotic

Hyperglycinemias, Ketotic

Ketotic Glycinemia

Ketotic Glycinemias

Ketotic Hyperglycinemia

Ketotic Hyperglycinemias

PCC Deficiencies

PCC Deficiency

Propionic Acidemias

Propionic Aciduria

Propionic Acidurias

Propionic, Acidemia





Propionics, Acidemia

Propionyl CoA Carboxylase Deficiency

Propionyl-CoA Carboxylase Deficiencies

Propionyl-CoA Carboxylase Deficiency

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.