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 |
574 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
6 Month(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
First child of healthy parents was born at term after an uneventful pregnancy. After six months of normal development, the girl presented with feeding difficulties and vomiting. Stagnation of psychomotoric development and loss of weight.
Highly increased levels of glutaric acid in urine led to the diagnosis of glutaric aciduria type 1. Measurement of enzyme activity in leucocytes did not confirm these findings. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-18 18:36:36 |
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