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Patient case report | Main data
Patient ID 293
Diagnosis ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (MIM 311250)
Gender m
Age of symptoms onset 3 Day(s)
Age of diagnosis 15.00 Day(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The first child of nonconsanguineos parents showed muscular hypotonia in his first days of life. With growing lethargy and vomiting the baby was admitted to hospital at 14 days of life. High ammonia levels of more than 600 5mol/l led to the diagnosis of an urea cycle disorder. Because of normal excretion of orotic acid and normal levels of citrulline in serum, a CPS-deficiency was presumed. Therapy with sodium benzoate was changed to phenylbutyrate at 6 years of age, protein-restricted diet was continued. Since phenylbutyrate-therapy had started, ammonia levels decreased, mental development improved and feeding problems diminished.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-08-01 15:15:17
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