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 |
576 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
5.30 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: any, Father: any |
| History |
Child of healthy parents was born at term after an uneventful pregnancy. Postnatal, the boy was remarkable for macrocephalia. At the age of about 5 years, hospitalization because of psychomotoric retardation. MRI showed an extended arachnoid cyst and retardation of myelination. Highly increased levels of glutaric acid and 3-hydroxyglutaric acid in urine as well as reduced levels of free carnitine in plasma, led to the diagnosis of glutaric aciduria type 1. The diagnosis was confirmed by strongly reduced activity of glutaryl-CoA dehydrogenase in leucocytes. 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 21:51:17 |
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