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Patient case report | Main data
Patient ID 292
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.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Date of entry 2001-08-01 10:55:11
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