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 |
386 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
3 Day(s) |
| Age of diagnosis |
14.49 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Italian, Father: Italian |
| History |
Third child of healthy parents presented with feeding problems, continuous vomiting and growth retardation.
An unusual urine odor and acid breath were noticed.
At the age of 11 months the boy died. Diagnosis of MSUD was made by post-mortem examination. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-10-21 12:54:46 |
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