Mitochondrial fatty acid transport enzyme deficiency—implications for in vitro fertilization

Hull, M. Louise; Nemeth, David; Hague, William M.; Wilkinson, Chris; Liebelt, Jan; Lane, Michelle; Feil, Deanne

doi:10.1016/j.fertnstert.2009.01.104

« Previous Next »Fertility and Sterility
Volume 91, Issue 6 , Pages 2732.e11-2732.e14, June 2009

Mitochondrial fatty acid transport enzyme deficiency—implications for in vitro fertilization

M. Louise Hull, Ph.D.
- Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia
- REPROMED, Dulwich, South Australia, Australia
- Department of Obstetrics and Gynaecology, Women's and Children's Hospital, North Adelaide, South Australia, Australia
- Reprint request to: M. Louise Hull, Ph.D., Research Centre for Reproductive Health, 6th floor Medical School North, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia 5006. (FAX: 0061 8 8303 4099).
David Nemeth, FRACA
- REPROMED, Dulwich, South Australia, Australia
- Wakefield Anaesthetic Group, Adelaide, Australia
William M. Hague, M.D.
- Department of Obstetrics and Gynaecology, Women's and Children's Hospital, North Adelaide, South Australia, Australia
Chris Wilkinson, CMFM
- Department of Obstetrics and Gynaecology, Women's and Children's Hospital, North Adelaide, South Australia, Australia
Jan Liebelt, MBBS
- REPROMED, Dulwich, South Australia, Australia
- South Australian Clinical Genetics Service, Women's and Children's Hospital, South Australia, Australia
Michelle Lane, Ph.D.
- Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia
- REPROMED, Dulwich, South Australia, Australia
Deanne Feil, B.Sc. Hons
- Research Centre for Reproductive Health, Department of Obstetrics and Gynaecology, University of Adelaide, South Australia, Australia
- REPROMED, Dulwich, South Australia, Australia
- IVF Auckland, Auckland, New Zealand

Received 4 November 2008; received in revised form 10 January 2009; accepted 13 January 2009. published online 13 April 2009.

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.

Key Words: Mitochondria, carnitine palmitoyl transferase II, IVF, fatty acid transport, embryo culture, pregnancy

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M.L.H. has nothing to disclose. D.M. has nothing to disclose. W.M.H. has nothing to disclose; C.W. has nothing to disclose; J.L. has nothing to disclose; M.L. has nothing to disclose. D.F. has nothing to disclose.

This is an unfunded study and this work has not been presented at a meeting.

PII: S0015-0282(09)00146-0

doi:10.1016/j.fertnstert.2009.01.104

« Previous Next »Fertility and Sterility
Volume 91, Issue 6 , Pages 2732.e11-2732.e14, June 2009

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