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Patient case report | Main data
Patient ID 554
Diagnosis GLUTARIC ACIDEMIA I (MIM 231670)
Gender f
Age of symptoms onset 4 Month(s)
Age of diagnosis 19.81 Month(s)
Found in newborn screening n
Diagnosis confirmed y
Country Germany
Ethnic origin Mother: German, Father: German
History At the age of 4 months, the girl presented with spasticity and psychomtoric retardation. Metabolic investigation, highly increased levels of glutaric acid in urine, serum and spinal fluid as well as decreased levels of free carnitine in serum led to the diagnosis of glutaric aciduria type I. Initiation of lysine-reduced diet.
Author Willy Lehnert
Hospital University Childrens Hospital Freiburg
Coauthor(s)
Date of entry 2002-04-21 23:18:01
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