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 |
660 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
m |
| Age of symptoms onset |
3 Day(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: unknown, Father: unknown |
| History |
First child of healthy parents was born after an uneventful pregnancy with weight at birth of 4110 g and an APGAR of 9/10/10. A few days after birth, the boy presented with severe weight loss, often crying, apathia and muscular hypotonia. Highly increased levels of oritic acid in urine led to the diagnosis of ornithine transcarbamylase (OTC) deficiency. Unfortunately, the boy died of severe cardial complications at his 5th day of life.
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-08-25 16:33:15 |
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