Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
1084 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
m |
| Age of symptoms onset |
|
| Age of diagnosis |
7.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: Turkish |
| History |
One of binovular preterm twins, both afflicted with propionic acidemia.
Psychmotor retardation, numerous infections and metabolic decompensations.
Death by multiple organ failure in his 28th month of life. |
|
| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
|
| Date of entry |
2011-01-12 15:45:53 |
|
|
