Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization.
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.


METHODS
A case study.


METHODS
A private fertility unit and public obstetric hospital.


METHODS
A patient with a rare mutation in the mitochondrial fatty acid transport enzyme, carnitine palmitoyl transferase II.


METHODS
The patient received (IVF) fertility treatment and pregnancy care.


METHODS
Pregnancy and delivery of a healthy child.


RESULTS
This patient conceived on her first cycle of IVF and went on to deliver a healthy child.


CONCLUSIONS
Patients with adult-onset carnitine palmitoyl transferase II deficiency can have successful pregnancy outcomes after IVF, provided clinical and embryologic care is optimized.
Hull
M Louise
ML
Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia. louise.hull@adelaide.edu.au
Nemeth
David
D
Hague
William M
WM
Wilkinson
Chris
C
Liebelt
Jan
J
Lane
Michelle
M
Feil
Deanne
D
D000328:Adult; D000568:Amenorrhea; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D008597:Menstrual Cycle; D009154:Mutation; D011247:Pregnancy; D020554:Sperm Injections, Intracytoplasmic
D026901:Membrane Transport Proteins; C417506:SLC25A32 protein, human; D002334:Carnitine O-Palmitoyltransferase