Table 2. Clinical Phenotypes

OnsetClinical featuresFindings
Neonatal onsetPoor feeding
Vomiting
Irritability
Lethargy
Progressive encephalopathy
Seizures
Coma
Respiratory failure
High anion-gap metabolic acidosis
Ketonuria
Hyperammonemia (~80%)
Hypoglycemia
Elevated 3-OH propionic acid and methylcitric acid
Hyperglycinemia
Elevated propionylcarnitine
Neutropenia
Thrombocytopenia
Late onsetAcute, intermittent:
Encephalopathy, coma, and/or seizures precipitated by catabolic stressors (e.g., intercurrent illness, surgery)

Chronic progressive:
Vomiting, protein intolerance, failure to thrive, hypotonia, developmental regression, movement disorders

Isolated cardiomyopathy 1
+/- Metabolic acidosis or hyperammonemia
Elevated 3-OH propionic acid and methylcitric acid
Hyperglycinemia
MRI abnormalities including basal ganglia lesions 2

From: Propionic Acidemia

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2014.
Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

For more information, see the GeneReviews Copyright Notice and Usage Disclaimer.

For questions regarding permissions: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.