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 |
591 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
4.70 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
The child presented with ataxia, feeding problems and severe ratardation of neurologic development. MRI showed white matter abnormalities. Highly increased levels of glutaric acid in urine and serum 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 |
2002-06-02 22:39:17 |
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