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 |
149 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
f |
| Age of symptoms onset |
6 Week(s) |
| Age of diagnosis |
6.99 Week(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
At the age of 6 weeks, the infant was hosptilalized because of hyperammonemic coma with apathia, exsiccation and paleness. Organic acid analysis showed a typical excretion pattern of propionic acdemia. After hemofiltration at the University Childrens Hospital in Freiburg, Germany, the infant status improved rapidly, however, there was lactic acidemia due to thiamine deficiency responsive to thiamine supplementation (Matern D, Seydewitz HH, Lehnert W, Niederhoff H, Leititis JU, Brandis M. Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr 1996 Nov;129(5):758-60).
The patient, now 6 years old, shows a severe hearing defect and psychomotoric retardation. |
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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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