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.
Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia. louise.hull@adelaide.edu.au
M Louise
ML
Hull
David
D
Nemeth
William M
WM
Hague
Chris
C
Wilkinson
Jan
J
Liebelt
Michelle
M
Lane
Deanne
D
Feil
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