Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
865 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
19 Year(s) |
| Age of diagnosis |
19.00 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The authors report a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms and a severe leukoencephalopathy in MRI. Neuropsychological testing showed an average intelligence (IQ 94).
Diagnosis was made in the metabolic centre of Reutlingen (Prof.Trefz, Dr.Korall).
Neurology 2002; 59:1802-1804
12473778 |
|
| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
Baehr O, Mader I, Zschocke J, Dichgans J, Schulz JB |
| Date of entry |
2003-11-04 09:40:41 |
|
|
