Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
454 |
| Diagnosis |
PHENYLKETONURIA (MIM 261600) |
| Gender |
f |
| Age of symptoms onset |
|
| Age of diagnosis |
10.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient was found in the newborn screening program with elevated level of phenylalanine (984 micro-mol/ l). Under treatment with phe-restricted diet the girl developped normally (09.07.2001)
BH4 loading test at 9 years of age did not show significant decrease of blood phenylalanine. |
|
| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
|
| Date of entry |
2001-11-27 13:11:58 |
|
|
