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GENATLAS PHENOTYPE
last update : 04-07-2009
Symbol PCCA
Location 13q32
Name hyperglycinemia, ketotic, propionic acidemia A
Other name(s)
  • propionyl-coa carboxylase deficiency
  • glycinemia, ketotic
  • hyperglycinemia with ketoacidosis and leukopenia
  • Corresponding gene PCCA
    related resource Propionyl CoA Carboxylase Page
    Main clinical features
  • episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, developmental retardation, epilepsy, acute and progresive dystonic syndrome and intolerance toprotein, chemical features are hyperglycinemia and hyperglycinuria
  • Genetic determination
    Function/system disorder metabolism/organic acid
    Type disease
    Remark(s)
  • propionyl CoA carboxylase, alpha polypeptide (PCCA), with a detectable normally rare transcripts in patients with mRNA destabilizing mutations
  • high frequency of large genomic deletions in the PCCA gene, which could be due to the characteristics of the PCCA gene structure and its abundance in intronic repetitive elements (Desviat 2009)