Main data
|
Molecular genetics
|
Lab findings
|
Symptoms
|
Diet/drugs
|
Therapy/development
|
References
|
Disease information
|
Gene information
|
Pathway information
|
Substance information
|
Data management
|
|
|
Patient ID |
242 |
Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
Gender |
f |
Age of symptoms onset |
2 Month(s) |
Age of diagnosis |
2.58 Year(s) |
Found in newborn screening |
n |
Diagnosis confirmed |
n |
Country |
Germany |
Ethnic origin |
Mother: German, Father: German |
History |
The child of non consanguinic parents presentated progressive psychomotoric retardation after two months of normal development.
After 34 months of follow up the child
remained severely handicapped.
Pediatrics 1991;88:1194-1203
1956737 |
|
Author |
Published Cases |
Hospital |
Published Case |
Coauthor(s) |
Hoffmann GF, Trefz FK, Barth PG, Boehles HF, Biggemann B, Bremer HJ et al |
Date of entry |
2001-07-15 19:39:17 |
|
|