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Patient case report | Main data
Patient ID 570
Diagnosis GLUTARIC ACIDEMIA I (MIM 231670)
Gender f
Age of symptoms onset 11 Month(s)
Age of diagnosis 10.51 Month(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History The first child of healthy parents was born at term after an uneventful pregnancy. After 11 months of normal development, the girl initially presented with lethargy, fever and opisthotonus. Initiation of intensive care treatment. Highly increased levels of glutaric acid and 3-hydroxyglutaric acid in urine, reduced enzyme activity in leucocytes and increased levels of glutarylcarnitine in blood led to the diagnosis of glutaric aciduria type 1.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Coauthor(s)
Date of entry 2002-05-12 16:51:46
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