Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
589 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
2 Month(s) |
| Age of diagnosis |
2.27 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Head circumference at birth 38cm. Otherwise normal. At the age of 2 months, the boy presented with seizures and retardation of psychomotoric development. Metabolic investigations led to the diagnosis of glutaric aciduria type 1, at the age of two months. Highly increased levels of glutaric acid in urine, plasma and spinal fluid. Initiation of lysine-reduced diet. |
|
| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
|
| Date of entry |
2002-05-30 23:07:34 |
|
|
