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Patient case report | Main data
Patient ID 1097
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender f
Age of symptoms onset
Age of diagnosis 13.00 Day(s)
Found in newborn screening y
Diagnosis confirmed n
Country Germany
Ethnic origin Mother: German, Father: German
History The patient was found in the newborn screening program with mildly elevated levels of phenylalanine. BH4 loading test showed significant decrease of phe level. Hyperphenylalaninemia, no necessity of treatment.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2012-04-04 14:14:31
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