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 |
1093 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| Age of symptoms onset |
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| Age of diagnosis |
4.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
The patient was found in the newborn screening program with increased levels of phenylalanine. He is the third child with phenylketonuria of the family, brother ofID 1061 and 1077.
BH4 loading test did not show a significant decrease of phe levels.
Start of phe-restricted diet in the first week of life. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2011-11-18 14:26:33 |
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