3-Methylglutaconic Aciduria Type I

3-Methylglutaconic aciduria type I (MGA1) is a rare disorder of leucine catabolism. Very few patients with this condition have been described in the literature. The clinical picture ranges from asymptomatic patients to patients with speech delay or mild developmental delay and gastroesophageal reflux to those with severe encephalopathy with basal ganglia involvement, seizures and severe psychomotor retardation with progressive neurological deterioration.

Tests Available

Forms and Documents

Test Details

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

Ordering

501
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Ly et al., (2003) Hum Mutat 21:401-407.
  2. Illsinger et al., (2004) Pediatr Neurol 30:213-215.
  3. Matsumori et al., (2005) Pediatr Int 47:684-686.