Main data
|
Molecular genetics
|
Lab findings
|
Symptoms
|
Diet/drugs
|
Therapy/development
|
References
|
Disease information
|
Gene information
|
Pathway information
|
Substance information
|
Data management
|
|
|
Patient ID |
84 |
Diagnosis |
PHENYLKETONURIA (MIM 261600) |
Gender |
f |
Age of symptoms onset |
|
Age of diagnosis |
5.00 Day(s) |
Found in newborn screening |
y |
Diagnosis confirmed |
y |
Country |
Germany |
Ethnic origin |
Mother: German, Father: German |
History |
Increased phe of 26,4 mg/dl in newborn-screening. No response on tetrahydrobiopterin. Early start of phenylalanine restricted diet, normal development. IQ of 104 at 6 years of age. |
|
Author |
Friedrich Trefz |
Hospital |
Childrens Hospital Reutlingen |
Coauthor(s) |
|
Date of entry |
2001-03-31 00:00:00 |
|
|