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 |
573 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
21 Week(s) |
| Age of diagnosis |
3.78 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
First child of non consanguineous parents. The boy was born at term after an uneventful pregnancy. At the age of 21 months, he presented with fever and several neurologic signs, muscular hypertonia and opisthotonus. Severe deterioration of psychomotoric development was noticed. Both, recurrent clinical signs and severe retardation of psychomotoric development, led to the diagnosis of glutaric aciduria type 1, at nearly 4 years of age. Highly increased levels of glutaric acid in urine, plasma and spinal fluid. The diagnosis was confirmed by reduced activity of glutaryl-CoA dehydrogenase in fibroblasts. But, there was still a higher residual activity than normally seen in classical GDH deficiency. Initiation of lysine and tryptophan reduced diet and supplementation of carnitine. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-15 23:01:46 |
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