Interpretive Handbook

Test 61120 :
Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty-acid oxidation. There are 3 distinct clinical phenotypes: a lethal neonatal form, an early-onset infantile form, and a late-onset adult myopathic form. The lethal neonatal and early-onset infantile forms are characterized by liver failure, cardiomyopathy, seizures, hypoketotic hypoglycemia, peripheral myopathy and early death. The adult-onset myopathic form is the most common type and is characterized by exercise-induced muscle pain and weakness and may be associated with myoglobinuria. Males are more likely to be affected with the myopathic form than females.


Initial screening can be done with plasma acylcarnitines. Definitive diagnosis can be made by detection of reduced CPT enzyme activity. Mutations in the CPT2 gene are responsible for CPT II deficiency and sequencing of this gene is recommended after positive biochemical analysis.

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of diagnosis of carnitine palmitoyltransferase II deficiency


Carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency, but disease-causing mutations have not been identified in an affected individual

Interpretation Provides information to assist in interpretation of the test results

An interpretative report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

A small percentage of individuals who are carriers or have a diagnosis carnitine palmitoyltransferase II (CPT II) deficiency may have a mutation that is not identified by this method (eg, promoter and deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of positive carrier status or the diagnosis of CPT II deficiency. For carrier testing, it is important to first document the presence of a CPT2 gene mutation in an affected family member.


In some cases, DNA alterations of undetermined significance may be identified.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical and biochemical findings, additional testing should be considered.


A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.  


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Bonnefont JP, Djouadi F, Prip-Buus C, et al: Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004 Oct-Dec;25(5-6):495-520

2. Siguake E, Rakheja D, Kitson K, Bennet M: Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest 2003 Nov;83(11):1543-1554