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 |
588 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
3 Month(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
Third child of healthy parents was born at term after an uneventful pregnancy. Healthy siblings.
At the age of 3 months, the girl presented with fever, feeding problems and muscular hypotonia. MRI showed dilated ventricles and cerebral atrophy. Metabolic investigations, increased levels of glutaric acid and 3-hydroxyglutaric acid in urine, as well as decreased levels of free carnitine in plasma, led to the diagnosis of glutaric aciduria type 1. Initiation of carnitine supplementation and lysine reduced diet. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-30 23:01:16 |
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