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 |
567 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
0 Day(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 non consanguineous parents. At the age of about 14 months, the boy presented with fever, seizures and spasticity. MRI showed dilated ventricles. Slightly increased levels of glutaric acid and 3-hydroxyglutaric acid led to the diagnosis of glutaric aciduria type 1. Determination of GDH activity confirmed these findings. Low glutaryl-CoA dehydrogenase activity in cultured fibroblasts was found. The activity measured was less than ten percent of normal mean. This confirmed that the child is suffering from GDH deficiency. But there is a substantial residual activity of GDH. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-05 22:44:46 |
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