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Case report
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Patient case report | Main data
Patient ID 105
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender f
Age of symptoms onset
Age of diagnosis 5.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History Blood phenylalnine of 39,6 mg/dl in newborn-screening. Start of phe-restricted diet at 2 weeks of age. No tetrahydrobiopterine loading in the newborn. However, at 3.5 years BH4 loading showed a clear response. Repeat of BH4 loading with sapropterin at 14 years of age did not show a significant decrease of blood phenylalanine.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-03-31 00:00:00
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