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 |
571 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
m |
| Age of symptoms onset |
11 Month(s) |
| Age of diagnosis |
10.41 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Fourth child of healthy parents. No consanguinity. The boy was born spontaneously after an uneventful pregnancy. After 11 months of normal development, the boy presented with several neurological signs. Spasticity, paresis, abnormal eye movement. MRI showed retardation of myelination. Abnormal visual evoked potentials.
Metabolic investigation, highly increased excretion of glutaric acid and decreased levels of carnitine in serum led to the diagnosis of glutaric aciduria type 1. The diagnosis was confirmed by reduced activity of glutaryl-CoA-dehydrogenase. Initiation of lysine and tryptophan reduced diet, substitution 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 22:15:57 |
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