IMINOGLYCINURIA - A BENIGN TYPE OF INHERITED AMINOACIDURIA

Citation
T. Coskun et al., IMINOGLYCINURIA - A BENIGN TYPE OF INHERITED AMINOACIDURIA, Turkish Journal of Pediatrics, 35(2), 1993, pp. 121-125
Citations number
NO
Categorie Soggetti
Pediatrics
ISSN journal
00414301
Volume
35
Issue
2
Year of publication
1993
Pages
121 - 125
Database
ISI
SICI code
0041-4301(1993)35:2<121:I-ABTO>2.0.ZU;2-Z
Abstract
The diagnosis of iminoglycinuria was established in two patients on th e basis of increased urinary excretion of proline, hydroxyproline and glycine in the presence of normal plasma concentrations of these respe ctive compounds. Routine metabolic screening was performed in these in fants in order to find the cause for the developmental delay observed in one infant and the siblings deaths noted in the family of the other . These two patients gave further support to the previous suggestion t hat renal iminoglycinuria is a benign disorder with no recognizable di nical pattern. tts detection, therefore, requires screening programs o r aminoacid studies.