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 |
568 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
10 Month(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
n |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
Child of healthy parents. The girl presented with severe seizures and fainting, after 10 months of normal development. Intensive care treatment. Increased levels of glutaric acid in urine led to the diagnosis of glutaric aciduria type 1. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-12 15:27:22 |
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