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Propionic acidemia results from a deficiency of mitochondrial propionyl-CoA carboxylase, an enzyme that is required for metabolism of propionyl-CoA, a metabolic intermediate in the metabolism of certain amino acids and fatty acids, and results in the buildup of propionic acid and other metabolites in plasma and urine. Biochemical tests are carried out during newborn screening to assess metabolic markers for propionic acidemia.  Patients may present either in the neonatal period or later in childhood.  Neonatal-onset propionic acidemia is initially characterized by poor feeding, vomiting, and hypotonia, followed by encephalophathy, coma, and seizures if untreated.  Late-onset propionic acidemia is characterized by developmental regression, vomiting, hypotonia, and movement disorders.  This next-generation sequencing panel targets the coding regions for 2 genes associated with propionic acidemia.

Reasons for Referral:

  • Abnormality in newborn screening
  • Confirmation of a clinical diagnosis
  • Carrier testing
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

Propionic Acidemia (2 genes):



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