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Patient case report | Main data
Patient ID 564
Diagnosis GLUTARIC ACIDEMIA I (MIM 231670)
Gender m
Age of symptoms onset 0 Day(s)
Age of diagnosis 10.97 Month(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: Turkish, Father: Turkish
History Second child of healthy, non-consanguineous Turkish parents. The boy presented with macrocephaly and several neurological signs. Highly increased levels of glutaric acid in urine were found and led to the diagnosis of glutaric aciduria type 1. Initiation of lysine- and tryptophan reduced diet.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Coauthor(s)
Date of entry 2002-05-02 16:26:08
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