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Patient case report | Main data
Patient ID 210
Diagnosis PROPIONIC ACIDEMIA (MIM 606054)
Gender m
Age of symptoms onset 1 Week(s)
Age of diagnosis 3.43 Week(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Turkish, Father: Turkish
History After a difficult birth, the son of consanguine Turkish parents showed hypotonia, severe feeding problems und at the age of 3 weeks tonic-clonic seizures. Organic acids in urine showed the typical pattern of propionic acidemia.
Author Friedrich Trefz
Hospital Childrens Hospital Reutlingen
Coauthor(s)
Date of entry 2001-06-25 14:21:05
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