10 LYSINURIC PROTEIN INTOLERANCE (LPI): A POSSIBLE DEFECT IN DIAMINO ACID TRANSPORT IN PULMONARY ALVEOLAR EPITHELIUM

Abstract

LPI is autosomal recessive disease with a defect in diamino acid transport in renal, hepatic and Intestinal cells. There has been 3 cases of acute respiratory failure among 32 LPI cases, age 3 to 46 years; two of them died. Therefore, amino acids in bronchoalveolar lavage (BAL) and plasma were studied in 4 cases of LPI and 9 controls. Amino acid concentrations in the alveolar fluid were calculated (J Appl Phys 60:532, 1986). In LPI concentration of arglnine in alveolar fluid was 19.9 (range 11.3-30.0) and in plasma 36.4 C15.9-56.95 umol/l; healthy controls 6.2 (2.6-15.2) and 121 (99-142) umol/1, respectively. Distribution of amino acids in alveolar fluid/ plasma (mean, range, umol/unol) was as follows: Surfactant was normal in asymptomatic cases. - We propose that In LPI a defect In basolateral dlamino acid transport in alveolar epithelium predisposes to acute respiratory failure.