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 |
338 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
6 Day(s) |
| Age of diagnosis |
10.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
At the age of 8 days, the patient was admitted to hospital with severe vomiting and apathia. Diagnosis was made because of highly increased levels of valine, leucine and isoleucine in serum. Therapy was initiated with protein-restricted diet and isoleucine-/leucine- and valine-free amino acid mixture.
During infections, he had metabolic decompensations on average once a year.
The patient developed normally and has a normal intelligence. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-09-17 09:37:25 |
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