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 |
581 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
3 Year(s) |
| Age of diagnosis |
17.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
After three years of normal development, the boy presented with ataxia and retardation of psychomotoric development.
No or normal excretion of glutaric acid, but slightly increased levels of 3-hydroxyglutaric acid in urine and spinal fluid, led to the diagnosis of glutaric aciduria type 1. Very decreased glutaryl-CoA dehydrogenase (GDH) activity in leucocytes confirmed these findings. The activity found was only 3 per cent of normal mean. The activity of the mother was the heterozygous range. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-23 22:05:04 |
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