Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
584 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Highly increased levels of glutaric acid in urine led to the diagnosis of glutaric aciduria type 1. |
|
| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
|
| Date of entry |
2002-05-23 23:25:40 |
|
|
