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 |
517 |
| 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 4th child of healthy parents was found in the newborn screening program with increased levels of phenylalanine ( 900 micro-mol/ l). No response on BH4-loading. Treatment with phe-restricted diet and aminoacid mixture. Psychmotoric development is normal at the age of 3 years.
At the age of 7 years, BH4 loading test was repeated with sapropterin. Blood phe showed a decrease of >30%. Since 2005 treatment with tetrahydrobiopterin.
IQ of 97 (09/2010). |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-02-20 11:46:19 |
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