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). In the classic form, MA elevations are typically higher than MMA, and affected individuals have normal malonyl-CoA decarboxylase enzyme activity. CMAMMA has a broad phenotypic spectrum, presenting in childhood and in adults. Most affected individuals have metabolic acidosis, developmental delay, seizures, and cardiomyopathy. 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. However, some affected individuals exhibit no clinical symptoms and the disorder is believed to be under-diagnosed.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

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

Ordering

659
4-5 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
  • 270.09 Aciduria, organic
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. Alfares et al. (2011) J. Med. Genet. 48 (9):602-5 (PMID: 21785126)
  2. Sloan et al. (2011) Nature Genetics 43 (9):883-6 (PMID: 21841779)
  3. Pupavac et al. (2016) Mol. Genet. Metab. : (PMID: 26827111)