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

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

Ordering

501
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | 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

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.