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

More general terms

• acidemia
• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/606054