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Lysinuric protein intolerance (LPI; MIM 222700) is an inherited aminoaciduria with an autosomal recessive mode of inheritance. Biochemically, affected patients present with increased excretion of the cationic amino acids: lysine, arginine, and ornithine. We report the first case of LPI diagnosed in
Lysinuric protein intolerance is an autosomal recessive disorder which first appears as failure to thrive, vomiting and diarrhea in the infant after weaning from mother's milk. Later it manifests as failure to grow, muscular weakness and osteopenia associated with aversion to animal protein. Some
In lysinuric protein intolerance, a disease resulting from an autosomal recessive disorder of diamino acid transport, citrulline, unlike arginine and lysine, is absorbed normally from the intestine. In 19 patients with LPI, the status after 2 years of treatment with citrulline or citrulline + lysine
Lysinuric protein intolerance (LPI), an autosomal recessive defect of diamino acid transport, is characterized chemically by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. Our 20 patients thrived during breast-feeding,
The recent proposal by Lawson and Rainey (2015) to restrict the genus Clostridium to Clostridium butyricum and related species has ramifications for the members of the genera that fall outside this clade that should not be considered as Clostridium sensu stricto. One such organism of profound