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propionic acidemia

Genetics: - associated with defects in PCCA (type 1) - associated with defects in PCCB (type 2) Clinical manifestations: - life-threatening disease - episodic vomiting - lethargy - developmental retardation - intolerance to protein Laboratory: - ketosis - neutropenia - periodic thrombocytopenia - hypogammaglobulinemia

General

acidemia enzyme deficiency

Database Correlations

OMIM 606054

References

  1. OMIM :accession 606054
  2. UniProt :accession P05165