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 |
569 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
4 Month(s) |
| Age of diagnosis |
10.23 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: unknown, Father: unknown |
| History |
At the age of about 4 months, the boy presented with seizures and paresis. At the age of 10 years, metabolic investigation led to the diagnosis of glutaric aciduria type 1. The diagnosis was confirmed by decreased glutaryl CoA dehydrogenase activity in fibroblasts. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-12 16:12:00 |
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