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Hepatosplenomegaly, haematological anomalies and neurological involvement, including hyperammonaemic coma, are recurrent clinical features SB431542 clinical trial [4, 5]. Two major complications, pulmonary alveolar proteinosis and renal disease, are increasingly observed in LPI patients [5, 6]. The disease has long been erroneously considered relatively benign when appropriately treated with low-protein diet and l-citrulline supplementation. During the past years, however, other manifestations have suggested that LPI is not only a urea cycle disorder, but also a complex multisystem disease with an uncertain outcome [7], thus considerably modifying the way to view this disorder. Fig. 1. Pathway for the disposal of nitrogen waste products in the urea cycle. Each number represents the following enzymes: check details 1, carbamylphosphate synthetase; 2, ornithine carbamyltransferase; 3, argininosuccinate synthetase; 4, argininosuccinate lyase; 5, arginase; ... We describe the clinical course in a patient with LPI and renal pathology. Case report The patient was diagnosed with LPI at the 7 years of age; she was born to consanguineous (first-cousin) healthy parents after three abortions. The patient had a brother who died at the age of 6 years of respiratory failure; he was diagnosed with mucopolysaccharidosis because of the findings of delayed psychomotor development, anorexia, repeated episodes of acute bronchitis, hepatosplenomegaly and pancytopenia. At 6 years, our patient presented signs and symptoms similar to those observed in her brother: in particular, she was hospitalized because of delayed psychomotor development, vomiting and mild hepatosplenomegaly. The family history and clinical features suggested a diagnosis ADAMTS12 of metabolic disease that was then investigated. Complete blood count showed that mild pancytopenia, renal and hepatic functions were normal, lactate was 2.5 mmol/L (normal ferritin was 103 mmol/L (normal 2�C59 mmol/L) and LDH was 1180 U/L (normal 26�C534 U/L). LPI was diagnosed based on the findings of reduced plasma ornithine, arginine and lysine, and of an increase in their urinary levels. The final proof of a defect in the SLC7A7 amino acid transporter was given by the finding of a homozygous c.726G>A mutation in the patient's DNA [8], responsible for the premature termination of the protein at aminoacid 242. Subsequently, she was put on a protein-restricted diet (0.7�C1.2 g/kg per day) and l-citrulline supplementation (100 mg/kg per day), and in the following 2 years her clinical condition remained stable and the plasma ammonia levels were in the normal range. Then, at the age of 9, a persistent metabolic acidosis (pH 7.33, pCO2 28 mmHg and bicarbonate 14 mmol/L) with an elevated anion gap of 20.4 (normal