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 |
560 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
m |
| Age of symptoms onset |
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| Age of diagnosis |
5.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient was found in the extended newborn screening program (Prof. Sander, Hannover, Germany) with elevated levels of propionylcarnitine. Controls during the following months showed increase of propionylcarnitine levels (13 5 mol/ l).
Increased excretion of 3-OH-propionc acid and methylcitric acid finally led to the diagnosis of propionic acidemia in a mild form. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-04-24 16:32:05 |
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