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Phenylketonuria in a patient with cystinuria

✍ Scribed by R. Minami; K. Olek; P. Wardenbach

Publisher
Springer
Year
1975
Tongue
English
Weight
318 KB
Volume
28
Category
Article
ISSN
0340-6717

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✦ Synopsis

During routine screening procedures for amino-acid disorders by thin-layer chromatography, a 16-year-old boy was found to have phenylketonuria and cystinuria. A phenylalanine and a cystine loading were carried out. The patient was found to be homozygous for phenylketonuria and heterozygous for cystinuria type II. His father was heterozygous for phenylketonuria and cystinuria, while his mother proved to be heterozygous only for phenylketonuria.

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