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Homocitrullinuria and homoargininuria in lysinuric protein intolerance
Author(s) -
Kato T.,
Sano M.,
Mizutani N.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800719
Subject(s) - medicine , urea cycle , endocrinology , amino acid , urea , ornithine , chemistry , urinary system , biochemistry , biology , arginine
Summary A 14‐year‐old boy with lysinuric protein intolerance had increased plasma and urinary concentrations of homocitrulline and homoarginine. The accumulation of carbamylphosphate due to depleted supply of ornithine for the urea cycle may be responsible for the enhanced synthesis of homocitrulline and homoarginine. A renal clearance study showed that the tubular transport of homoarginine in the patient was impaired. In lysinuric protein intolerance, membrane transport system for homoarginine may be defective because it is presumed that homoarginine shares a common transport system with the dibasic amino acids.