Propionic acidaemia

Propionic acidemia (disorder)

active

Code	`69080001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Hyperglycinaemia with ketosis and leucopenia
Hyperglycinemia with ketosis and leukopenia
Ketotic glycinaemia
Ketotic glycinemia
Ketotic hyperglycinaemia
Ketotic hyperglycinemia
PCC - Propionyl-CoA carboxylase deficiency
Propionic acidemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency

Parents (7)

70731005Acidaemia disorder
85995004Autosomal recessive hereditary disorder disorder
116020001Disorder of branched-chain amino acid metabolism disorder
84618009Disorder of propionate AND/OR methylmalonate metabolism disorder
78548001Enzymopathy disorder
86095007Inborn error of metabolism disorder
26513001Non-amino organic acidaemia AND/OR aciduria disorder

Children (4)

399087009Propionic acidaemia, type I disorder
399149003Propionic acidaemia, type II disorder
303094000Propionyl-CoA carboxylase deficiency pccA complementation group disorder
303095004Propionyl-CoA carboxylase deficiency pccBC complementation group disorder