Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14


Lysinuric protein intolerance (LPI) is caused by mutations in the SLC7A7 gene at 14q11.2. Its clinical presentation includes failure to thrive, protein intolerance due to a secondary urea cycle defect, interstitial lung disease, renal tubulopathy, and immune disorders. Maternal uniparental disomy 14 (UPD14mat) is the most common cause of Temple syndrome (TS14), which is characterized by severe intrauterine and postnatal growth failure. Here, we describe a severe form of LPI accompanied by TS14 in an 11-month-old girl, which presented as profound failure to thrive and delayed development. LPI was diagnosed by the detection of a homozygous mutation of c.713 C>T (p.Ser238Phe) in SLC7A7, which was eventually found to co-occur with UPD14mat. Despite receiving a protein-restricted diet with citrulline and lysine supplementation, the severe failure to thrive has persisted at follow-up of the patient at 4 years of age.

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We are grateful to the patient and her family for participating in this study.

Author contributions

EK and BHL drafted the manuscript. All authors were involved in the diagnosis and treatment of the patient. All authors read and approved the final manuscript.


This work was supported by research funds from the National Research Foundation of Korea (NRF-2018M3A9H1078335).

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Correspondence to Beom Hee Lee.

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The authors declare that they have no conflict of interest.

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Informed consent was obtained from the parents of the patient regarding the reporting and publication of this case report. As it was not a clinical trial and no off-label drugs were used, ethical board approval was not necessary for this case report.

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Kang, E., Kim, T., Oh, A. et al. Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. J Hum Genet 64, 1137–1140 (2019).

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