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 |
635 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
12 Month(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Second child of healthy parents was born at term after an uneventful pregnancy and delivery. Weight at birth of 2520 g. After 12 months of normal development, the girl presented with recurrent vomiting and bleeding tendency. Decreased values for coagulation factors 2, 7, 9 and 10 were found. Highly elevated levels of ammonia in serum and increased excretion of orotic acid led to the diagnosis of ornithine transcarbamylase (OTC) deficiency. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-07-30 23:12:44 |
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