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 |
578 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
4 Month(s) |
| Age of diagnosis |
11.01 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
First child of consanguineous parents. After four months of normal development, the girl presented with retardation of neurologic development and muscular hypotonia. MRI showed dilated ventricles and a small arachnoid cyst. Metabolic investigation, highly increased levels of glutaric acid and 3-hydroxyglutaric acid in urine, led to the diagnosis of glutaric aciduria type 1. Lysine-reduced diet. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-20 22:36:55 |
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