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 |
147 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
1.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
Prenatal diagnosis of a biotine non responsive propionic acidemia by amniocentesis, after a brother had
died of propionic acidemia in the same
year.
Numerous metabolic crises during infections. Intelligence-deficiency, deafness, dwarfism and osteoporosis. The patient now works in a working place for handicapped persons after his diet has optimized for an adult. |
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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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