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 |
308 |
| Diagnosis |
MAPLE SYRUP URINE DISEASE (MIM 248600) |
| Gender |
m |
| Age of symptoms onset |
8 Day(s) |
| Age of diagnosis |
7.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Austria |
| Ethnic origin |
Mother: Caucasian, Father: Caucasian |
| History |
In this 12 year old Boy plasma leucine concentrations above 1000 micromol/L caused severe neurological decompensation with coma at a younger age. Apart from hair loss he tolerates values over 2000 micromol/L without any CNS changes during the last half year.
J. Inherit. Metab. Dis. 23 (2000) 513-514
10947206
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| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
Skladal D, Grissenauer G, Konstantopoulou V, Felber S, Sperl W |
| Date of entry |
2001-08-08 15:59:50 |
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