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Patient case report | Main data
Patient ID 1091
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender f
Age of symptoms onset
Age of diagnosis 7.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The patient was found in the newborn sreening program with elevated levels of phenylalanine. Diagnosis of phenylketonuria was confirmed by molecular genetic analysis. BH4-loading test did not show any decrease of phe level. Start of phe-restricted diet in the second week of life.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2011-11-09 09:54:31
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