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 |
387 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
2 Day(s) |
| Age of diagnosis |
15.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
First child of consanguineous Turkish parents was born by section after uncomplicated pregnancy.
The boy was admitted to hospital and presented with feeding difficulties, seizures, opisthotonus and respiratory insufficiency.
Diagnose was made because of increased loads of valine, leucine and isoleucine in serum. Protein restricted diet was initiated.
The clinical symptoms declined. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-10-21 14:05:26 |
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