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 |
619 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
m |
| Age of symptoms onset |
3 Day(s) |
| Age of diagnosis |
5.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: Turkish, Father: Turkish |
| History |
The son of consanguineous Turkish parents was hospitalized at 3 days of age with the typical symptoms of a decompensated propionic acidemia. Ammonia levels of 1500 5mol/l.
Psychmotor and mental development is severely retarded. Feeding problems resisted in spite of PEG. Additional difficult social conditions of the family led to the patients admission in an institution for mentally retarded children in his 6th year of life. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-07-22 12:19:38 |
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