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 |
516 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| 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: Yugoslav, Father: German |
| History |
The patient was found in the newborn screening program with elevated levels of phenylalanine (960 micro-mol/ l). No response on BH4-loading after birth. At 10 years of age, clear response on BH4; the patient has been included in a tetrahydrobiopterine treatment study.
Normal development: IQ of 97 at 6 years of age, IQ of 103 at 11 years of age.
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-02-19 14:55:36 |
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