Carnitine Palmitoyltransferase II Deficiency

Test Description:

Carnitine palmitoyltransferase II (CPT II) deficiency is inherited in an autosomal recessive manner and has three main forms which vary in severity, known as the myopathic, severe infantile, and neonatal forms. Most patients with CPT II present with the myopathic form, which is the least severe type. This form is characterized by breakdown of muscle tissue, muscle pain, and weakness when the patient undergoes prolonged physical exercise, fasting, or viral illnesses. The severe infantile form typically has an age of onset between 6 and 24 months, and involves episodes of hypoketotic hypoglycemia caused by an intolerance to fasting, which may progress to seizures and coma. Liver failure and cardiac arrhythmias may also occur. The most severe type of CPT II deficiency, known as the lethal neonatal form, includes the same symptoms of the infantile form as well as malformations of the kidneys and brain, and is lethal within days or months. CPT II deficiency is caused by mutations in the CPT2 gene. Testing for four mutations, p.S113L, p.Q413fs, p.R124*, and p.S38fs, are expected to identify over 95% of carriers with Ashkenazi Jewish ancestry, where the carrier frequency has been determined to be 1 in 45.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


1. Taggart RT, Smail D, Apolito C, Vladutiu GD. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat. 199913(3):210-20.
2. Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet. 2001 Aug 1102(2):183-7.

Specimen Requirements


Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: Two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Ship at room temperature

Turnaround Time:

10 – 14 days

CPT Code:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel