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 |
167 |
Diagnosis |
PHENYLKETONURIA (MIM 261600) |
Gender |
m |
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: German, Father: German |
History |
Increased phenylalanine in newborn-sreening with a phe-level of 23 mg/dl in the 7th day of life led to the diagnosis of PKU. BH4- load showed no decrease of phenylalanine after 8 hours. Biopterine metabolites were normal (Dr. N. Blau, Zuerich). This patient has classical phenylketonuria and is treated with a phe-restricted diet.
IQ of 100 (02/2004). |
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Author |
Friedrich Trefz |
Hospital |
Childrens Hospital Reutlingen |
Coauthor(s) |
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Date of entry |
2001-03-31 00:00:00 |
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