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Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

  • Luise BorchEmail author
  • Allan Meldgaard Lund
  • Flemming Wibrand
  • Ernst Christensen
  • Charlotte Søndergaard
  • Birthe Gahrn
  • David Michael Hougaard
  • Brage Storstein Andresen
  • Niels Gregersen
  • Rikke Katrine Jentoft Olsen
Case Report
Part of the JIMD Reports book series (JIMD, volume 3)

Abstract

Carnitine palmitoyl transferase (CPT) 1 A deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. CPT1 deficiency is included in newborn screening programs in a number of countries to allow presymptomatic detection and early treatment of affected patients.

We present a case of presymptomatic CPT1A deficiency detected through newborn screening in Denmark with diagnostic levels of carnitine and acylcarnitines in the initial dried blood spot. Levels of plasma-free carnitine and acylcarnitines in follow-up samples were normal, but reverted to diagnostic levels when the patient developed clinical symptoms at the age of 8 months. At that time, a diagnosis of CPT1A deficiency was confirmed by sequence analysis of the CPT1A gene revealing homozygosity for a novel c.167C>T variation in exon 3. Enzyme activity measurements showed a relatively mild enzyme defect with a decreased residual enzyme activity of 17–25%. We conclude that CPT1A gene testing and/or enzyme assay is mandatory to confirm an abnormal newborn screen suggesting CPT1A deficiency to avoid delayed diagnoses.

Keywords

Newborn Screening Residual Enzyme Activity Free Carnitine Urine Organic Acid Newborn Screening Program 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgement

We thank the patient and her family for their contribution. This work was supported by grants from the Danish Medical Research Council.

References

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Luise Borch
    • 1
    Email author
  • Allan Meldgaard Lund
    • 2
  • Flemming Wibrand
    • 2
  • Ernst Christensen
    • 2
  • Charlotte Søndergaard
    • 3
  • Birthe Gahrn
    • 4
  • David Michael Hougaard
    • 5
  • Brage Storstein Andresen
    • 6
  • Niels Gregersen
    • 4
  • Rikke Katrine Jentoft Olsen
    • 4
  1. 1.Paediatric DepartmentAarhus University Hospital SkejbyAarhusDenmark
  2. 2.Department of Clinical GeneticsRigshospitaletCopenhagenDenmark
  3. 3.Paediatric DepartmentRegionshospitalet Herning HospitalHerningDenmark
  4. 4.Research Unit for Molecular MedicineAarhus University Hospital and Faculty of Health SciencesAarhusDenmark
  5. 5.Department of Clinical Biochemistry and ImmunologyStatens Serum InstitutCopenhagenDenmark
  6. 6.Department of Biochemistry and Molecular BiologyUniversity of Southern DenmarkOdenseDenmark

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