propionic acidemia 2

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propionic acidemia 22016-12-03T07:53:42+00:00

propionic acidemia 2


Definition A life-threatening condition (OMIM:606054) characterised by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, developmental retardation, and intolerance to protein.

Lab Hypogammaglobulinemia, hyperglycinemia, hyperglycinuria

Molecular pathology Defects of PCCB, which encodes a subunit of propionyl-CoA carboxylase–PCC, a mitochondrial enzyme involved in propionyl-CoA catabolism, are a cause of propionic acidemia type II.  


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