ArticleMolecular genetics and metabolism reports2022
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 4 citations in OpenAlex.
- Expanding the Donor Pool to the Ultimate Level: Introducing the Revolutionary Hybrid Dual Graft Liver Transplant Using Domino and Living Donors.Transplantation direct · 2024Article
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7 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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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