Carnitine Palmitoyltransferase II (CPT2) Deficiency

Carnitine Palmitoyltransferase II (CPT2) deficiency is the most common defect of mitochondrial fatty acid oxidation. Three clinical phenotypes have been described. The most common type, described in over 200 cases, is the myopathic (or adult-onset) form characterized by recurrent attacks of myalgia accompanied by myoglobinuria (triggered by exercise, fasting, cold exposure or stress), possible weakness during attacks and usually no signs of myopathy between attacks, with onset between the first and sixth decade. For reasons currently unknown, the majority (~80%) of myopathic form patients are males. The severe infantile form of CPT2 has been described as liver failure, cardiomyopathy, seizures, hypoketotic hypoglycemia, peripheral myopathy and attacks of abdominal pain and headache with onset in the first year of life. A lethal neonatal form has been identified and is characterized by dysmorphic features (cystic renal dysplasia and neuronal migration defects) along with the symptoms of the infantile form, with death usually occurring within the first month.

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


  • 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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