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 |
428 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| 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 levels of phenylalanine. During the first 10 years of life, there were no problems concerning the treatment.
Now (Nov. 2001), the patient is 13 years old and there are several problems caused by puberty, so that compliance of diet is rather bad.
Phe-levels should be about 15 mg/dl. A stronger diet would lead to conflicts at this age of life. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-11-09 15:45:21 |
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