Isovaleric Acidemia

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism. The acute neonatal phenotype usually presents within the first 2 weeks of life with poor feeding, vomiting, decreased levels of consciousness, seizures, acidosis and hyperammonemia. A characteristic smell of “sweaty socks” may also be present during an acute illness. A chronic intermittent presentation may occur that is characterized by recurrent episodes of ketoacidosis, vomiting, lethargy, coma and varying degrees of developmental delay. Patients who survive the acute neonatal presentation have a similar clinical course as those with the chronic phenotype. Since the inception of MS/MS based newborn screening, a group of potentially asymptomatic patients has emerged with a mild biochemical phenotype.

Tests Available

Forms and Documents

Test Details

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

Ordering

3191
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 276.2 Acidosis Acidosis
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103

Forms and Documents

Test Details

IVD
  • Confirmation of biochemical diagnosis
  • Mutation testing following a positive newborn screen for IVA to rule out the common c.932 C?T mutation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

3192
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 276.2 Acidosis Acidosis
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103

Forms and Documents

Test Details

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

Ordering

3193
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 276.2 Acidosis Acidosis
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103