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Patient case report | Main data
Patient ID 623
Gender m
Age of symptoms onset 0 Day(s)
Age of diagnosis 12.44 Year(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The boy was born after an uneventful pregnancy and delivery with an APGAR of 9/10/10 and a weight at birth of 4700g. After 5 years of normal development, the boy presented with ataxia and fasciculations. At the age of 11 years, hospitalization because of fever, diarrhea and lethargy. Highly increased levels of orotic acid in urine. Two days after hospitalization, the boy suddenly died.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Date of entry 2002-07-23 22:36:59
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