Prolidase deficiency: A patient without hydroxyproline‐containing iminodipeptides in urine

Summary A 17‐year‐old girl was shown to have prolidase deficiency on the basis of the presence of large amounts of proline‐containing dipeptides in urine and an almost complete absence of prolidase in plasma and erythrocytes. Unlike most earlier cases of this genetic defect our patient did not excre...

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Veröffentlicht in:	Journal of inherited metabolic disease 1988-06, Vol.11 (2), p.161-165
Hauptverfasser:	Wysocki, S. J., Hahnel, R., Mahoney, T., Wilson, R. G., Panegyres, P. K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acids - urine Biological and medical sciences Dipeptidases - deficiency Dipeptides - urine Errors of metabolism Female Humans Hydroxyproline - urine Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders
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Zusammenfassung:	Summary A 17‐year‐old girl was shown to have prolidase deficiency on the basis of the presence of large amounts of proline‐containing dipeptides in urine and an almost complete absence of prolidase in plasma and erythrocytes. Unlike most earlier cases of this genetic defect our patient did not excrete hydroxyproline‐containing dipeptides in her urine.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/BF01799866