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 |
364 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
15 Month(s) |
| Age of diagnosis |
14.82 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Austria |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient is third child from a mother suffering from diabetes mellitus. After normal pregnancy and birth, the psychomotoric development was normal ,too.
At the age if 15 months the patient was admitted to hospital and presented with seizures and coma following gastointest. infection.
Diagnosis was made because elevated levels of valine, leucine and isoleucine in serum, and was confirmed by highly decreased activity of decarboxylizing of leucine in fibroblasts.
Protein-restricted diet was initiated.
In his 12th year of life the patient had an IQ of 79. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-09-24 15:26:37 |
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