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 |
292 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
9 Month(s) |
| Age of diagnosis |
17.87 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The girl is the first child of nonconsanguineous healthy parents. Until the age of 9 months, the baby developed well, but from this time (end of breast milk feeding), the mother noticed more and more attacks of vomiting accompanied by hypotonia. At the age of 17 months, the infant was admitted to hospital because of persistent vomiting. Ammonia level of 332 5mol/l and highly increased excretion of uracil and orotic acid were significant for an OTC-deficiency. Therapy with sodium benzoate and protein-restricted diet was initiated.
During the following years, numerous infections brought her to metabolic decompensations near to coma with fast increasing ammonia levels.
Genetic analysis revealed an obviously spontaneous mutation, for in her mothers genome this mutation was not detectable.
In 2004, myocarditis because of borrelia infection with following arrythmia.
At 13 years of age, metabolic decompensation and coma. Development of cerebral edema, 3 days later the girl died.
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-08-01 10:55:11 |
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