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 |
378 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
f |
| Age of symptoms onset |
10 Day(s) |
| Age of diagnosis |
0.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Arabian, Father: Arabian |
| History |
At the age of ten days, the patient presented with sepsis, hypotonia, lethargy, alkalosis, raised plasma ammonia.
Increased loads of valine and leucine in serum were remarkable.
There is a family history of more than two perinatal deaths and brain damage. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-10-06 15:43:26 |
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