Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Deletion/Duplication

Condition Description

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Onset of symptoms is typically rapid, and occurs during febrile or gastrointestinal illness when energy demands are increased. Between episodes, individuals may appear developmentally and cognitively normal, unless previous metabolic decompensation has resulted in neurological damage. There are three types of CPT1A: hepatic encephalopathy, adult-onset myopathy, and acute fatty liver of pregnancy. In hepatic encephalopathy, children present with hypoketotic hypoglycemia and sudden onset of liver failure. Adult-onset myopathy has been observed in one individual of Inuit ancestry, whose presenting feature was a history of exercise-induced sudden-onset muscle cramping. Acute fatty liver of pregnancy occurs when the fetus has CPT1A deficiency.

Typical laboratory findings are hypoglycemia, absent or low levels of ketones, elevated liver transaminases, elevated serum ammonia concentration, and elevated total serum carnitine. In most affected individuals, CPT I enzyme activity in cultured skin fibroblasts accounts for 1%-5% of control activity. Screening for CPT1A deficiency by detecting an elevated ratio of free-to-total carnitine in serum or plasma on a blood spot is available in some state newborn screening programs. CPT1A (11q13) is the only gene associated with CPT1A deficiency.

For patients with suspected CPT1A, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.


Genes (1)

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This test is indicated for:

  • Confirmation of a clinical/biochemical diagnosis of CPT1A deficiency in individuals who have tested negative for sequenceanalysis
  • Carrier testing in adults with a family history of CPT1A deficiency who have tested negative for sequence analysis


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations.

Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

Please submit copies of diagnostic biochemical test results along with the sample. Contact the laboratory if further information is needed. Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.
  • Sequencing analysis of the CPT1A gene is available and is required before deletion/duplication analysis.
  • Known Mutation Analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
  • Prenatal Custom Diagnostics is available to couples who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.

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