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 |
494 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
f |
| Age of symptoms onset |
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| Age of diagnosis |
6.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient was found in the newborn screening program with elevated phe-level of 1020 micro-mol/ l.
BH4-loading in the newborn showed no response on phe level, dietary treatment was started in the second week of life. At 3 years of age, BH4 loading with 300 mg/day was repeated and showed a very good response (Figure). Normal psychomotoric development. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-01-11 15:40:59 |
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