Journal of Clinical Medicine (Oct 2023)

Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review

  • Adriana Pané,
  • Camila Milad,
  • Marta Santana-Domínguez,
  • Núria Baños,
  • Cristina Borras-Novell,
  • Gerard Espinosa,
  • Laura Magnano,
  • Meritxell Nomdedeu,
  • Pedro Juan Moreno-Lozano,
  • Frederic Cofan,
  • Mercè Placeres,
  • Rosa Maria Fernández,
  • Judit García-Villoria,
  • Glòria Garrabou,
  • Irene Vinagre,
  • Laura M. Tanner,
  • Cristina Montserrat-Carbonell,
  • Maria de Talló Forga-Visa

DOI
https://doi.org/10.3390/jcm12196405
Journal volume & issue
Vol. 12, no. 19
p. 6405

Abstract

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Lysinuric protein intolerance (LPI) is a rare inborn error of metabolism (IEM), classified as an inherited aminoaciduria, caused by mutations in the SLC7A7 gene, leading to a defective cationic amino acid transport. The metabolic adaptations to the demands of pregnancy and delivery cause significant physiological stress, so those patients affected by IEM are at greater risk of decompensation. A 28-year-old woman with LPI had experienced 3 early miscarriages. While pregnancy was finally achieved, diverse nutritional and medical challenges emerged (food aversion, intrauterine growth restriction, bleeding risk, and preeclampsia suspicion), which put both the mother and the fetus at risk. Moreover, the patient requested a natural childbirth (epidural-free, delayed cord clamping). Although the existence of multiple safety concerns rejected this approach at first, the application of novel strategies made a successful delivery possible. This case reinforces that the woman’s wish for a non-medicated, low-intervention natural birth should not be automatically discouraged because of an underlying complex metabolic condition. Achieving a successful pregnancy is conceivable thanks to the cooperation of interdisciplinary teams, but it is still important to consider the risks beforehand in order to be prepared for possible additional complications.

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