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 |
1098 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| 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: Yugoslav, Father: Yugoslav |
| History |
The patient was found in the newborn screening program with mildly elevated levels of phenylalanine. BH4-loading test showed significant decrease of phe levels.
During the first 4 months, normal nutrition and normal development. From the 5th month, phe levels rose above 400 ¿mol/l. Start of phe-restricted diet in the 6th month of life. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2012-05-30 14:53:46 |
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