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 |
616 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
2 Day(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 |
First child of healthy parents was born at term after an uneventful pregnancy and delivery with an APGAR of 9/10/10. After two days of normal development, the boy presented with hypertonia and seizures. Increased excretion of orotic acid and lactate in urine. At the age of 4 days, the boy suddenly died. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-07-21 15:00:11 |
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