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Patient case report | Main data
Patient ID 660
Gender m
Age of symptoms onset 3 Day(s)
Age of diagnosis 0.00 Day(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: unknown, Father: unknown
History First child of healthy parents was born after an uneventful pregnancy with weight at birth of 4110 g and an APGAR of 9/10/10. A few days after birth, the boy presented with severe weight loss, often crying, apathia and muscular hypotonia. Highly increased levels of oritic acid in urine led to the diagnosis of ornithine transcarbamylase (OTC) deficiency. Unfortunately, the boy died of severe cardial complications at his 5th day of life.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Date of entry 2002-08-25 16:33:15
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