Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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Data management
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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.
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Author |
Friedrich Trefz |
Hospital |
Childrens Hospital Reutlingen |
Coauthor(s) |
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Date of entry |
2001-03-31 00:00:00 |
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