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 |
462 |
| 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 patient was found in the newborn screening program with increased levels of phenylalanine (1570 micro-mol/ l) in dry blood spot. Tetrahydrobiopterine-test did not show any decrease of phe-level.
Therapy with phe-restricted diet and amino acid mixture made some problems in the first year.
Later on, treatment was tolerated very well, so that development up to now (11.12.2001) is quite normal.
Repeat of BH4 loading with sapropterin at 10 years of life did not show any decrease of blood phenylalanine. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-12-11 12:29:33 |
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