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Patient case report | Main data
Patient ID 1098
Diagnosis PHENYLKETONURIA (MIM 261600)
Gender m
Age of symptoms onset
Age of diagnosis 6.00 Day(s)
Found in newborn screening y
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Yugoslav, Father: Yugoslav
History The patient was found in the newborn screening program with mildly elevated levels of phenylalanine. BH4-loading test showed significant decrease of phe levels. During the first 4 months, normal nutrition and normal development. From the 5th month, phe levels rose above 400 ┬┐mol/l. Start of phe-restricted diet in the 6th month of life.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2012-05-30 14:53:46
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