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 |
615 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
12.42 Month(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. The elder brother suddenly died at the age of 5 days.
At the age of one year, the girl presented with lethargy. Metabolic investigation led to the diagnosis of ornithine transcarbamylase (OTC) deficiency. The diagnosis was conformed by decreased activity of OTC in liver. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-07-21 14:15:57 |
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