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 |
388 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
f |
| Age of symptoms onset |
2 Month(s) |
| Age of diagnosis |
8.80 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Arabian, Father: Arabian |
| History |
First child of consanguineous Arabian parents. The girl was born spontaneously after uncomplicated pregnancy.
At the age of two months she presented with seizures and feeding difficulties.
At the age of 8 months, the girl was admitted to hospital. Growth retardation and hearing problems were noticed. Increased levels of valine, leucine and isoleucinein in serum and spinal fluid led to the diagnosis of MSUD. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-10-21 16:00:40 |
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