Propionic Acidemia

Propionic acidemia (PA) is a disorder of organic acid metabolism caused by deficient activity of mitochondrial propionyl-CoA carboxylase. Onset often occurs in the neonatal period and is associated with developmental delay and early death. The common clinical presentation includes severe ketoacidosis, vomiting, poor feeding, lethargy, hypotonia and coma. Hyperammonemia, seizures and hepatomegaly may also be present. A small number of patients have only exhibited neurologic signs. Late-onset patients usually have a milder course.

Tests Available

Forms and Documents

Test Details

PCCA
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2902
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Desviat et al., (2009) Mol Genet Metab 96:171-176
  2. Desviat, L.R. et al (2006) J Hum Genet 51:992-997
  3. Desviat, L.R., et al (2004) Molec Genet Metab 83:28-37
  4. Yang, X. et al (2004) Molec Genet Metab 81:335-342
  5. Perez, B., et al (2003) Molec Genet Metab 78:59-67

Forms and Documents

Test Details

PCCB
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2901
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Desviat, L.R. et al (2006) J Hum Genet 51:992-997
  2. Yang, X. et al (2004) Molec Genet Metab 81:335-342
  3. Perez, B., et al (2003) Molec Genet Metab 78:59-67
  4. Desviat, L.R., et al (2004) Molec Genet Metab 83:28-37
  5. Desviat et al., (2009) Mol Genet Metab 96:171-176