Table 2. Clinical Phenotypes

OnsetClinical featuresFindings
Neonatal onset
  • Poor 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

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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