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 |
623 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
12.44 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The boy was born after an uneventful pregnancy and delivery with an APGAR of 9/10/10 and a weight at birth of 4700g. After 5 years of normal development, the boy presented with ataxia and fasciculations. At the age of 11 years, hospitalization because of fever, diarrhea and lethargy. Highly increased levels of orotic acid in urine. Two 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 |
2002-07-23 22:36:59 |
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