Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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 Data management
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| Patient ID |
294 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
1.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient is the first child of healthy nonconsanguineous parents. The patient and her mother are heterocygote for OTC-deficiency. In contrast to her mother, the patient suffers from vomiting since her early childhood, especially after opulent meals. Psychomotoric development was quite normal. Intelligence test revealed an IQ above average. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-08-02 14:53:53 |
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