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 |
133 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
2 Week(s) |
| Age of diagnosis |
20.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
At the age of 2 weeks, the infant was transferred to hospital because of feeding problems and hypotonia alternating with opisthotonus. Branched chain amino acids were highly increased.
The infant could be treated conservatively with protein restriction, and intravenous hyperalimentation together with amino acid supplementaion.
At that time extended newborn screening was just started (University of Heidelberg, Germany), the patient also was found in this screening project with highly elevated leucine. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-03-31 00:00:00 |
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