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Case report
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Patient case report | Main data
Patient ID 643
Gender m
Age of symptoms onset 0 Day(s)
Age of diagnosis 16.36 Month(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Yugoslav, Father: Yugoslav
History Second child of healthy, Yugoslav parents was born at term after an uneventful pregnancy and delivery. At the age of 2 years, the boy presented with recurrent periods of tiredness and with retardation of psychomotoric development. Metabolic investigation, increased levels of ammonia in serum and highly elevated excretion of orotic acid led to the diagnosis of ornithine transcarbamylase deficiency. The diagnosis was confirmed by decreased activity of ornithine transcarbamylase (OTC) in liver.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Date of entry 2002-08-18 19:09:10
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