Combined Malonic and Methylmalonic Aciduria (CMAMMA)

Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism characterized by elevations of urinary malonic acid (MA) and methylmalonic acid (MMA), MA elevations higher than MMA, and normal malonyl-CoA decarboxylase enzyme activity. The symptoms of CMAMMA are variable with presentation in childhood and in adults. Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy; some affected individuals exhibit no clinical symptoms. Other findings reported include: coma, hypoglycemia, failure to thrive, immunodeficiency, microcephaly, dystonia reported in children, whereas adults have also presented with psychiatric disease, memory problems and cognitive decline. The incidence of CMAMMA has been estimated at approximately 1 in 30,000.

Tests Available

Forms and Documents

Test Details

ACSF3
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

659
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 270.09 Aciduria, organic
* For price inquiries please email zebras@genedx.com

References

  1. Alfares et al., (2011) J Med Genet 48:602-605. 2. Sloan et al., (2011) Nat Genet 43:883-886.