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 |
572 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
12 Month(s) |
| Age of diagnosis |
19.02 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Lebanese, Father: Lebanese |
| History |
Child of consanguineous parents. At the age of one year, the boy presented with psychomotoric retardation and severe seizures. Increased levels of glutaric acid in urine led to the diagnosis of glutaric aciduria type 1.
At 11 years of age, we saw a patient with severe mental retardation, spastic tetraplegia, athetosis and severe dystonia of head, arms and legs. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-15 22:28:28 |
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