Journal of Inherited Metabolic Disease

, Volume 29, Issue 5, pp 627–630

Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

  • S. Vijay
  • A. Patterson
  • S. Olpin
  • M. J. Henderson
  • S. Clark
  • C. Day
  • G. Savill
  • J. H. Walter
Original Article

DOI: 10.1007/s10545-006-0376-y

Cite this article as:
Vijay, S., Patterson, A., Olpin, S. et al. J Inherit Metab Dis (2006) 29: 627. doi:10.1007/s10545-006-0376-y

Summary

Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood. Blood carnitine concentrations are extremely low. The diagnosis can be confirmed by finding abnormal fat oxidation and carnitine uptake in skin fibroblasts. The condition has not previously been thought to present later in life or to be benign. We report the identification of four women discovered to have CTD as a consequence of finding low carnitine concentrations in the cord blood or newborn samples from their infants. All four mothers had been asymptomatic and none had a cardiomyopathy.

Abbreviations

CTD

carnitine transporter defect

TMS

tandem mass spectrometry

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • S. Vijay
    • 1
  • A. Patterson
    • 2
  • S. Olpin
    • 3
  • M. J. Henderson
    • 2
  • S. Clark
    • 3
  • C. Day
    • 4
  • G. Savill
    • 5
  • J. H. Walter
    • 1
  1. 1.Willink Biochemical Genetics UnitRoyal Manchester Childrens HospitalUK
  2. 2.Department of Clinical ChemistrySt James University HospitalLeedsUK
  3. 3.Neonatal Screening LaboratorySheffield Childrens HospitalSheffieldUK
  4. 4.Neonatal UnitBradford Royal InfirmaryBradfordUK
  5. 5.Airedale General HospitalKeighleyUK

Personalised recommendations