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 |
575 |
| Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
| Gender |
f |
| Age of symptoms onset |
5 Month(s) |
| Age of diagnosis |
14.29 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: any, Father: any |
| History |
Child of consanguineous parents. After 5 months of normal development, the girl presented with retardation psychomtoric development. At the age of 14 years, metabolic investigations led to the diagnosis of glutaric aciduria type 1. Highly increased levels of glutaric acid were found in urine. MRI showed a cerebral atrophy. Initiation of lysine-reduced diet and substitution of carnitine. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2002-05-18 18:59:46 |
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