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 |
366 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
f |
| 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: Hispanic, Father: Hispanic |
| History |
Second child of healthy parents. No complications under pregnancy, birth without any complications.
In hospital, opisthotonus and hypertonia occured.
Seizures and maple sirup odor surprised after 6 days.
Increased levels of valine, leucine and isoleucine in serum were found and led to diagnosis of MSUD.
After initiation of protein-restricted diet, the girl developed well.
During infections, the girl is suffering from severe metabolic decompensations. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-09-24 17:38:02 |
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