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Homocitrullinuria and homoargininuria in hyperargininaemia
Author(s) -
Kato T.,
Sano M.,
Mizutani N.,
Hayakawa C.
Publication year - 1988
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/bf01800367
Subject(s) - lysine , amino acid , medicine , endocrinology , urinary system , excretion , biology , biochemistry , chemistry
Summary A four‐year‐old boy with hyperargininaemia had increased urinary excretion of homocitrulline and homoarginine. A single oral lysine load created a marked increase in these amino acids in plasma. A daily oral lysine supplementation resulted in a remarkable urinary leakage of homocitrulline and homoarginine. These findings suggest that the patient had an enhanced synthesis of these amino acids.