Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood
2017
Background
Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management.
Keywords:
- Endocrinology
- Lysinuric protein intolerance
- Internal medicine
- Urea cycle disorder
- Biology
- Food intolerance
- Hemophagocytic lymphohistiocytosis
- Retrospective cohort study
- Disease
- Systemic lupus erythematosus
- Inborn error of metabolism
- Failure to thrive
- Pulmonary alveolar proteinosis
- Cytopenia
- Myocardial infarction
- Kidney disease
- Correction
- Source
- Cite
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