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 |
566 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
5 Month(s) |
| Age of diagnosis |
6.24 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Third child of healthy parents. The girl developed normal until the age of 5 months. At the age of five months, hospitalisation because of a swollen chin and a hematoma. One day later, severe infection, cardiac arrest, intensive care treatment. Metabolic screening, highly increased levels of glutaric acid in urine, led to the diagnosis of glutaric aciduria type 1. 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 |
2002-05-05 22:41:38 |
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