Carnitine Acylcarnitine Translocase Deficiency

Carnitine-acylcarnitine translocase (CACT) deficiency is one of the most severe disorders of fatty acid oxidation associated with a high mortality at the initial presentation or during the first year of life. Onset is typically in the early newborn period with features that include cardiomyopathy, arrhythmias, liver dysfunction and skeletal muscle damage. In a significant proportion of cases sudden, unexplained death, presumably due to arrhythmia is the first sign of disease. A minority of patients have a later onset with a milder clinical phenotype and there are a few reports of long-term survival after starting an intensive treatment protocol. There is a patient reported who has been treated since birth and is asymptomatic at 4.5 years.

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
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
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  1. Korman et al., (2006) Mol Genet Metab 89:332-338
  2. Iacobazzi et al., (2004) Hum Mutat 24:312-320
  3. Costa et al., (2003) Mol Genet Metab 78 :68-73