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 |
105 |
Diagnosis |
PHENYLKETONURIA (MIM 261600) |
Gender |
f |
Age of symptoms onset |
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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. |
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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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