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 |
365 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
4 Day(s) |
| Age of diagnosis |
6.42 Week(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The first child of healthy parents was born spontaneously after uncomplicated pregnancy.
On his 4th day of life he presented with seizures and one day later with severe feeding difficulties.Admitted to hospital, an unusual urine odor was noticed.
Diagnose was made because of increased loads of valine, leucine and isoleucine in serum.
The patient is suffering from strong cerebral defect with tetraplegia. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-09-24 16:37:07 |
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