Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
643 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
16.36 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Yugoslav, Father: Yugoslav |
| History |
Second child of healthy, Yugoslav parents was born at term after an uneventful pregnancy and delivery. At the age of 2 years, the boy presented with recurrent periods of tiredness and with retardation of psychomotoric development. Metabolic investigation, increased levels of ammonia in serum and highly elevated excretion of orotic acid led to the diagnosis of ornithine transcarbamylase deficiency. The diagnosis was confirmed by decreased activity of ornithine transcarbamylase (OTC) in liver. |
|
| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
|
| Date of entry |
2002-08-18 19:09:10 |
|
|
