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 |
999 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
m |
| Age of symptoms onset |
18 Month(s) |
| Age of diagnosis |
20.40 Month(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
n |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient was found in the extended newborn screening program with increased levels of propionylcarnitin, but the parents were not instructed.
Until the age of 18 months, normal development, no vomiting.
At 18 months of age, the boy fell into coma during a gastroenteritis, metabolic acidosis, ammonia: 288 micro-grams/ dl.
Increased levels of propionic acid in dried blood spot and elevated excretion of propionic acid metabolites led to the diagnosis of propionic acidemia.
IQ of 105 (11/2008) |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2005-06-27 15:28:08 |
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