Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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Data management
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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. |
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Author |
Willy Lehnert |
Hospital |
University Childrens Hospital Freiburg |
Coauthor(s) |
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Date of entry |
2002-04-21 23:18:01 |
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