Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization
M Louise Hull1, David Nemeth, William M Hague
1Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia. louise.hull@adelaide.edu.au
Objective:
To describe the individualized clinical and embryologic care required by a patient with adult-onset carnitine palmitoyl transferase II deficiency during IVF treatment and in a subsequent pregnancy.
Design:
A case study.
Setting(S):
A private fertility unit and public obstetric hospital.
Patient(S):
A patient with a rare mutation in the mitochondrial fatty acid transport enzyme, carnitine palmitoyl transferase II.
Intervention(S):
The patient received (IVF) fertility treatment and pregnancy care.
Main Outcome Measure(S):
Pregnancy and delivery of a healthy child.
Result(S):
This patient conceived on her first cycle of IVF and went on to deliver a healthy child.
Conclusion(S):
Patients with adult-onset carnitine palmitoyl transferase II deficiency can have successful pregnancy outcomes after IVF, provided clinical and embryologic care is optimized.
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