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GENATLAS PHENOTYPE
last update : 29-04-2013
Symbol PCCB
Location 3q22.3
Name hyperglycinemia, ketotic, propionic acidemia B
Corresponding gene PCCB
related resource Propionyl CoA Carboxylase Page
Main clinical features
  • episodic hyperammonemia, hyperglycinemia, episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, epilepsy, acute and progresive dystonic syndrome and intolerance to protein, chemical features are hyperglycinemia and hyperglycinuria
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name propionyl CoA carboxylase,beta polypeptide (PCCB)
    Remark(s)