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Case report
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Patient case report | Main data
Patient ID 167
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
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 Increased phenylalanine in newborn-sreening with a phe-level of 23 mg/dl in the 7th day of life led to the diagnosis of PKU. BH4- load showed no decrease of phenylalanine after 8 hours. Biopterine metabolites were normal (Dr. N. Blau, Zuerich). This patient has classical phenylketonuria and is treated with a phe-restricted diet. IQ of 100 (02/2004).
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-03-31 00:00:00
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