Carnitine Palmitoyltransferase IA Deficiency

Carnitine Palmitoyltransferase IA (CPT1A) deficiency is a very rare disorder of long-chain fatty acid oxidation that typically presents in childhood after a period of fasting or metabolic stress with a Reye-like illness: hypoketotic hypoglycemia, hepatomegaly, sudden onset of liver failure, seizures and in some instances coma. Between such episodes, individuals appear developmentally normal unless past episodes have resulted in neurological damage. Involvement of cardiac and skeletal muscle is typically not present; however, several cases with slight cardiomegaly or bradycardia have been described. At this time, a single individual homozygous for the P479L mutation presented as an adult with recurrent episodes of activity-induced muscle pain with elevated serum creatine kinase. Acute fatty liver of pregnancy (AFLP) or maternal HELLP syndrome (hypertension, elevated liver enzymes, low platelets) may occur in a pregnant woman carrying a fetus with CPT1A deficiency.

Tests Available

Forms and Documents

Test Details

CPT1A
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

425
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 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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References

  1. Bennett, M. (Updated [Mar. 24, 2009]).
  2. Bennett et al., (2004) Mol Genet Metab 82:59-63.
  3. Korman et al., (2005) Mol Genet Metab 86:337-343.
  4. Gobin et al., (2002) Hum Genet 111:179-189.
  5. Brown et al., (2001) J Lipid Res 42:1134-1142.
  6. Bonnefont et al., (2004) Mol Aspects Med 25:495-520.