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 |
647 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
10.64 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: any, Father: any |
| History |
The girl presented with vomiting, somnolence and irritability. Highly increased levels of ammonia in serum and elevated levels of orotic acid in urine led to the diagnosis of ornithine transcarbamylase deficiency. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-08-18 20:29:31 |
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