Abstract
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. A case study. A private fertility unit and public obstetric hospital. A patient with a rare mutation in the mitochondrial fatty acid transport enzyme, carnitine palmitoyl transferase II. The patient received (IVF) fertility treatment and pregnancy care. Pregnancy and delivery of a healthy child. This patient conceived on her first cycle of IVF and went on to deliver a healthy child. 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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