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 |
626 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
First child of healthy, consanguineous Turkish parents. The boy was born at term after an uneventful pregnancy and delivery. After two years of normal development, the child presented with fever, lethargy and vomiting. Hospitalization because of severe seizures, coma and hyperreflexia. Initiation of intensive care treatment after development of a cerebral edema. Increased levels of orotic acid in urine and increased levels of ammonia led to the diagnosis of ornithine transcarbamylase deficiency. The diagnosis was confirmed by decreased activity of ornithine transcarbamylase (OTC) in liver. A few days after hospitalization, 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 |
2002-07-28 21:44:58 |
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