Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.

Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the maternal PKU Syndrome. We present the case of a woman with classical PKU unable to maintain a restricted diet and refractory to pharmacological therapies. She elected to undergo a domino liver transplant, receiving an organ from a donor with classical branched chain ketoacid dehydrogenase deficiency (maple syrup urine disease). Plasma phenylalanine concentrations normalized within a few days after transplant and remained so on an unrestricted diet during the first year of follow-up. The patient reports subjective improvements in mood, energy level, and overall quality of life. In the appropriate clinical setting, liver transplant should be considered to provide metabolic stability for PKU patients, particularly women of childbearing age.

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© 2022 Published by Elsevier Inc.

Déclaration de conflit d'intérêts

The authors of this manuscript have no conflicts of interest to disclose. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.