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 |
821 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
m |
| Age of symptoms onset |
3 Day(s) |
| Age of diagnosis |
6.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
Before the birth of the patient, the family lost 4 children who suffered from propionic acidemia. The patient spent several years in hospital because of metabolic decompensations.
The patient presents with dwarfism, obesity, muscular hypotonia, osteoporosis, coordination defect and severe hearing defect. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2003-05-14 17:45:41 |
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