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 |
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. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-12 16:51:46 |
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