Lysinuric Protein Intolerance

02/01/1984 - "This result may suggest that an adequate supply of arginine is effective in improving the growth retardation in lysinuric protein intolerance."
01/01/2020 - "y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance."
10/01/2006 - "Impaired portal circulation resulting from L-arginine deficiency in patients with lysinuric protein intolerance."
09/01/2001 - "Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance."
12/01/1981 - "[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]]."

01/01/1989 - "Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts."
01/01/1989 - "Ornithine oxidation was depressed in HHH and gyrate atrophy cells but not in lysinuric protein intolerance cells; the latter finding suggests there is no significant mitochondrial defect in lysinuric protein intolerance cells. "
08/01/1974 - "Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance."
01/01/2023 - "SLC7A7 deficiency, or lysinuric protein intolerance (LPI), causes loss of function of the y+LAT1 transporter critical for efflux of arginine, lysine and ornithine in certain cells. "
12/01/1988 - "We measured mediated fluxes of L-lysine and L-ornithine across the plasma membrane of erythrocytes from control subjects and patients homozygous for the lysinuric protein intolerance (LPI) mutation. "

02/01/2007 - "Long-term oral lysine supplementation in lysinuric protein intolerance."
07/01/2003 - "Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance."
06/07/1980 - "Basolateral-membrane transport defect for lysine in lysinuric protein intolerance."
06/01/1980 - "Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance."
11/01/2012 - "Progressive chronic kidney disease (CKD) is common in lysinuric protein intolerance (LPI), a primary inherited aminoaciduria characterized by massive Lysine excretion in urine. "

10/01/2019 - "Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies."
07/27/2021 - "Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. "
08/01/2013 - "Lysinuric protein intolerance can be misdiagnosed as food protein-induced enterocolitis syndrome."
12/01/1988 - "A new case of lysinuric protein intolerance is described in a 14 year-old Maghrebian child who presented with growth failure, vertebral osteoporosis, aversion to proteins and digital hippocratism, rarely described in this disease. "
11/01/2023 - "Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. "

02/01/1984 - "Growth hormone studies in lysinuric protein intolerance."
01/01/2015 - "Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature."
01/01/2015 - "Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature."
11/01/2006 - "Growth hormone deficiency in a patient with lysinuric protein intolerance."
01/01/2011 - "Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance."

03/01/1989 - "In lysinuric protein intolerance (LPI), an autosomal recessive disorder in renal-intestinal-hepatic diamino acid transport, there is an increased risk of ARDS. "
01/01/1985 - "Chemical pathology of diamino acid deficiency: considerations in relation to lysinuric protein intolerance."
03/01/1983 - "The defect of epithelial diamino acid transport in lysinuric protein intolerance (LPI) results from an abnormality of the basolateral cell membranes. "
01/01/1983 - "In lysinuric protein intolerance, diamino acid transport is defective at the basolateral membrane of the jejunal and renotubular epithelia. "
11/01/1980 - "Twenty-seven patients with lysinuric protein intolerance, an autosomal recessive disorder of diamino acid transport, have been followed at our hospital since 1965. "

01/01/2020 - "The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. "
06/01/1980 - "Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline."
12/01/1980 - "Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine."
01/01/1984 - "Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance."
01/01/2005 - "Lysinuric protein intolerance (LPI) is a disorder of dibasic amino acid transport secondary to mutation of the SLC7A7 gene characterized by renal failure, pulmonary alveolar proteinosis, lupus-like autoimmune symptoms and usually increased plasma citrulline. "

05/01/1994 - "The macrophages of patients with lysinuric protein intolerance contained significantly more multilamellar structures than did control cells and showed electron-dense material identified to contain excess iron. "
01/01/1981 - "Ferritinemia with subnormal iron stores in lysinuric protein intolerance."
01/01/1981 - "To study the mechanism of ferritinemia in patients with lysinuric protein intolerance (LPI), an autosomal recessive disorder of diamino acid transport, we made a histologic evaluation of intracellular iron and/or ferritin in bone marrow and liver aspirates of 21 patients. "
07/01/1983 - "Further, this condition is compared with lysinuric protein intolerance, an inborn error of diamino-acid transport where an opposite discrepancy between S-ferritin and storage iron is seen."

11/01/1980 - "Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance."
01/01/1981 - "To study the mechanism of ferritinemia in patients with lysinuric protein intolerance (LPI), an autosomal recessive disorder of diamino acid transport, we made a histologic evaluation of intracellular iron and/or ferritin in bone marrow and liver aspirates of 21 patients. "
07/01/1983 - "Further, this condition is compared with lysinuric protein intolerance, an inborn error of diamino-acid transport where an opposite discrepancy between S-ferritin and storage iron is seen."

04/01/2008 - "The aim of the study was to investigate the prevalence and mechanisms of development of carnitine deficiency in patients with lysinuric protein intolerance (LPI). "
04/01/2008 - "Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance."
05/01/2002 - "Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. "
12/01/1987 - "Plasma carnitine deficiency (41% of normal control) was found in a 9 year-old boy with lysinuric protein intolerance. "
12/01/1987 - "Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine."

01/01/2011 - "Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance."
12/01/1980 - "Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine."

01/01/2023 - "However, data on kidney transplantation in patients with lysinuric protein intolerance are limited, and up until now no data on clinical and biochemical improvement after kidney transplantation have been reported. "
01/01/2023 - "Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance."
01/01/2023 - "Kidney transplantation could in theory improve urine levels and, consequently, plasma levels of these amino acids and therefore improve clinical symptoms, as well as protein intolerance, in patients with lysinuric protein intolerance. "
01/01/2023 - "In this case report we describe a rare case of kidney transplantation in a lysinuric protein intolerance patient with substantial improvement in protein tolerance; in plasma and urine levels of ornithine, lysine, and arginine; and in lysinuric protein intolerance symptoms."

03/01/1983 - "Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance."
01/01/1984 - "Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance."
01/01/1983 - "Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine."

01/01/2023 - "Reversal of SLE and hemophagocytic lymphohistiocytosis caused by lysinuric protein intolerance through allogeneic hematopoietic stem cell transplantation."

01/01/2023 - "Chronic kidney disease in lysinuric protein intolerance is common and can progress to kidney failure and initiation of kidney replacement therapy. "