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 |
661 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
12.45 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
After one year of normal development, the girl presented with hyposomia and dystrophia. No other clinical signs or complications. Metabolic investigation, increased levels of ammonia in serum and elevated excretion of orotic acid, led to the diagnosis of ornithine transcarbamylase (OTC) deficiency. The diagnosis was confirmed by decreased enzyme-activity. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-08-25 16:54:11 |
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