Early Diagnosis of Lysinuric Protein Intolerance: A Case Report

Introduction: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from recessive inherited mutations involving the SLC7A7 gene that control the transport of urea cycle intermediates. Case report: In this study we report a case of a kid who diagnosed with LPI at age of 18 month, he has recurrent vomiting and diarrhea with a break in the height-weight curve, the dosage of orotic acid in the urine which was increased, the chromatography of the amino acids which found a low level of lysine, ornithine and arginine in the blood and increased in the urine suggestive of LPI. Discussion: The defects occur in the y+ LAT1 sub-unit of the cationic amino acids transporter localized in the kidney and also expressed in the lung, spleen and in circulating monocytes and macrophages, which explain that an LPI patient usually comes with hepatosplenomegaly, failure to thrive, aversion to protein rich food, and poor feeding.