propionic acidemia 2

Home » Classic Medicine » Syndromes » propionic acidemia 2
propionic acidemia 22016-12-03T07:53:42+00:00

propionic acidemia 2

GENETICS, METABOLISM

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.  

References http://www.uniprot.org/uniprot/P05166

http://www.omim.org/entry/606054

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.