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 |
565 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
5 Day(s) |
| Age of diagnosis |
5.06 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
n |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Second child of non consnguineous parents was born at term after an uneventful pregnancy. Normal mental development, but retardation in motor development. The girl presented with feeding problems, vomiting, hypotonia and athetosis. Slightly increased excretion of glutaric acid 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 |
2002-05-05 22:38:26 |
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