Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
304 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
10 Month(s) |
| Age of diagnosis |
15.31 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient was born as second child to healthy parents. Her sister, too, is healthy.
The baby developed well until the age of 10 months, when phases of vomiting started. At 15 months of age, febrile infection led to metabolic decompensation with highly increased ammonia levels and liver dysfunction. Diagnosis of OTC-deficiency was made, confirmed by molecular genetics analysis, and therapy with protein-restricted diet, Na-benzoate and biocarne was initiated. In January 1997, therapy with sodium phenylbutyrate was started, since then ammonia decreased to normal levels.
Psychomotoric and mental development is quite normal.IQ of 121 (07/2007). |
|
| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
|
| Date of entry |
2001-08-06 14:48:34 |
|
|
