Methionine Adenosyltransferase I/III Deficiency

Methionine adenosyltransferase I/III (MAT I/III) deficiency is an inborn error of metabolism characterized by isolated persistent hypermethioninemia in the absence of cystathionine ?-synthase deficiency, tyrosinemia type I, or liver disease. The clinical consequences of MAT I/III deficiency are highly variable. It appears that most individuals, particularly those with the R264H mutation, have elevation of plasma methionine and a relatively benign course, although the elevated methionine may be associated with an unusual breath odor. However, some patients have more severe findings including cognitive deficits, neurologic abnormalities, demyelination and other abnormalities on brain MRI

Tests Available

Forms and Documents

Test Details

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

Ordering

473
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
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.