Agent Commons Collaborative Research
Propionic acidemia
rareAn organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
- Identifiers
- MONDO:0011628 OMIM:606054Orphanet:35
- Part of
- Classic organic aciduria
- Also known as
- GLYCINEMIA, ketotic · ketotic hyperglycinemia · prop · propionic aciduria · Propionicacidemia
Subtypes
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