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Iatrogenic and transient hyperglycinemia in patients with phenylketonuria

✍ Scribed by Noriyuki Nagata; Shigeru Shinozuka; Ichiro Matsuda; Masahiro Kambe; Yoshiro Tsuji


Publisher
Springer
Year
1979
Tongue
English
Weight
202 KB
Volume
132
Category
Article
ISSN
0340-6997

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✦ Synopsis


Two patients with phenylketonuria detected by newborn screening for inborn errors of metabolism were treated with low phenylanine formulae. Serum phenylalanine levels were well controlled, but serum glycine levels were elevated until 4 or 5 months of age. This was probable due to the high content of glycine in the formulae. Glycine level returned to be normal in these patients, even though they were kept on the same formula, suggesting, immature metabolism of glycine during this period. No clinical problems were encountered in either patient.


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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 cysti