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Patient case report | Main data
Patient ID 565
Diagnosis GLUTARIC ACIDEMIA I (MIM 231670)
Gender f
Age of symptoms onset 5 Day(s)
Age of diagnosis 5.06 Month(s)
Found in newborn screening n
Diagnosis confirmed n
Country Germany
Ethnic origin Mother: German, Father: German
History Second child of non consnguineous parents was born at term after an uneventful pregnancy. Normal mental development, but retardation in motor development. The girl presented with feeding problems, vomiting, hypotonia and athetosis. Slightly increased excretion of glutaric acid led to the diagnosis of glutaric aciduria type 1.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Coauthor(s)
Date of entry 2002-05-05 22:38:26
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