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Case report
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Patient case report | Main data
Patient ID 104
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
Age of symptoms onset 0 Day(s)
Age of diagnosis 1.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History Father of this child also has PKU (Fig.1). Since the mother was found to be heterozygous for PKU prenatal diagnosis was performed and confirmed that the child has PKU. Directly after birth phenylalanine in dried blood contineously increased (Fig.2). Dietary treatment was started at 5 days of age.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-03-31 00:00:00
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