" /> Propionic acidemia - CISMeF





Preferred Label : Propionic acidemia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Pcc deficiency; Ketotic hyperglycinemia; Propionyl-coa carboxylase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the propionyl Coenzyme A carboxylase, alpha polypeptide gene (PCCA, 232000.0001); Caused by mutation in the propionyl Coenzyme A carboxylase, beta polypeptide gene (PCCB, 232050.0001);

Laboratory abnormalities : Hyperammonemia; Lactic acidosis; Elevated propionate; Elevated 3-hydroxypropionic acid; Elevated 3-methylcitric acid; Hyperglycinemia; Hyperglycinuria; Serum carnitine deficiency; Propionyl-CoA carboxylase deficiency; Hypoglycemia;

Prefixed ID : #606054;

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01/05/2025


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