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 |
435 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
11.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The third child of healthy parents was found in the newborn screening program with elevated levels of phenylalanine. After diagnosis was made, phe-restricted diet was initiated.
There never were decompensations, and mental and psychomotoric development were quite normal.
At the age of 6 years, she had an IQ of 111.
One of her elder brothers has a PKU, too (ID 436).
Repeat of BH4 loading test at 12 years of age 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 |
2001-11-14 16:14:23 |
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