Malonyl-CoA Decarboxylase Deficiency

Malonyl-CoA decarboxylase (MCD) deficiency is a rare inborn error of metabolism that affects beta-oxidation of fatty acids. At this time, over 20 patients with this condition have been reported. Symptoms of MCD deficiency include developmental delay, hypertrophic cardiomyopathy, seizures, acidosis, hypogylycemia and hypotonia as the most common features reported. Patients with no or only mild developmental delay have been described as has a patient with significant structural brain abnormalities. Identification of MCD deficiency may increase as a result of tandem mass spectrometry-based newborn screening.

Tests Available

Forms and Documents

Test Details

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


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


  • 796.6 Abnormal findings on neonatal screening
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  1. Malvagia et al., (2007) Ann Hum Genet 71:705-712
  2. Salomons et al., (2007) J Inherit Metab Dis 30:23- 28
  3. Wightman et al., (2003) Hum Mutat 22:288-300