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 |
436 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| 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 is the second one of dizygotic twins. The brother does not suffer from any metabolic disease. The patient was found in newborn screening program with increased levels of phenylalanine. After diagnosis of PKU (not BH4-sensitive) had been made, phe-restricted diet was initiated.
The boy developped normally. Only during infections, phe-levels were elevated.
IQ: 118 (26.07.1994)
Brother of ID 435.
repeat of BH4 loadig at 15 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 17:04:08 |
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