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 |
445 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
f |
| Age of symptoms onset |
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| Age of diagnosis |
7.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
Mild PKU, found in newborn screening program. In the first 2 years of life, treatment with phe-restricted diet. Because of noncompliance a trial with BH4 supplementation was started at 2.5 years of age. Under 20 mg/kg BW/ day of tetrahyrobiopterin there was a rapid decline of blood phe (figure). Diagnosis of BH4-sensitive PKU was confirmed and therapy with tetrahydrobiopterine was initiated.
At 10 years of age, IQ of 72. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-11-19 11:15:22 |
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