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Patient case report | Main data
Patient ID 1093
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
Age of symptoms onset
Age of diagnosis 4.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Turkish, Father: Turkish
History The patient was found in the newborn screening program with increased levels of phenylalanine. He is the third child with phenylketonuria of the family, brother ofID 1061 and 1077. BH4 loading test did not show a significant decrease of phe levels. Start of phe-restricted diet in the first week of life.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2011-11-18 14:26:33
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