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 |
577 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
8 Month(s) |
| Age of diagnosis |
8.21 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
After 8 months of normal development, the boy presented with feeding problems, jitterness and recurrent infections. Severe signs of neurologic involvement, but no spasticity. Elevated excretion of glutaric acid in urine led to the diagnosis of glutaric aciduria type 1. The usual diet was started. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-20 22:14:48 |
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