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 |
629 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
1 Day(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
n |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The boy is a preterm twin (brother: ID 628). Weight at birth of 2230 g, APGAR of 10/10/10. Similar to his brother, intensive care treatment because of severe seizures. Increased levels of orotic acid in urine and increased levels of ammonia in serum led to the diagnosis of ornithine transcarbamylase (OCT) deficiency. 10 days after birth, the boy died. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-07-28 22:54:49 |
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