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 |
620 |
| Diagnosis |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250) |
| Gender |
f |
| Age of symptoms onset |
5 Year(s) |
| Age of diagnosis |
24.34 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Diagnosis was made in the patients twentieth year of life after the death of her nephew (brother of ID 294), who died of OTC-deficiency.
Since her childhood, the patient had responded to high protein intake with nausea and vomiting. She is taking a vegeterian diet. In this case of heterocygote OTC-deficiency, elevated levels of glutamine in plasma could not be reduced only by protein-restricted diet, but treatment with sodium phenylbutyrate and sodium benzoate is necessary. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-07-23 11:01:48 |
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