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 |
329 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
f |
| Age of symptoms onset |
2 Month(s) |
| Age of diagnosis |
2.30 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Philippinean, Father: German |
| History |
The first child of healthy parents was admitted to hospital with severe vomiting and dehydration at 2 months of age. Elevated excretion of propionic acid and its metabolites led to diagnosis of propionic acidemia. Therapy with protein-restricted diet and carnitine-supplementation had been initiated. Frequent infections with metabolic decompensations and unsufficient development of the little girl led to long hospitalizations. Conditions improved after having installed a PEG and after the infant had been taken into care of a reliable family.
At the age of 5 years, a febrile gastrointestinal infection led to failure of liver and kidney and finally to death. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-08-23 12:36:08 |
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