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Case report
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Molecular genetics  Molecular genetics
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Patient case report | Main data
Patient ID 620
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.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2002-07-23 11:01:48
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