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Carnitine Palmitoyltransferase II (CPT2) Deficiency
CPT2 gene
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 in ~20 families 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 in 13 families 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. CPT2 is caused by mutations in the CPT2 gene. Sequence analysis is expected to identify greater than 95% of CPT2 mutations in affected individuals.
Using genomic DNA, bi-directional sequence of coding exons and corresponding intron/exon boundaries of the CPT2 gene (1-5) is analyzed. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
MYOPATHIC, CPT2 DEFICIENCY, LATE-ONSET, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HYPOKETOTIC, HYPOGLYCEMIA, HEPATOCARDIOMUSCULAR, CPT II DEFICIENCY, HEPATIC, INFANTILE, NEONATAL, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL, CPT II DEFICIENCY, LETHAL, acylcarnitine profile, C12-C18, long chain fatty acids
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