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 |
251 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
f |
| Age of symptoms onset |
1 Week(s) |
| Age of diagnosis |
7.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
In her first week of life, the third child of non-consanguineous healthy parents showed drowsiness and feeding problems. Metabolic acidosis and ketosis on the 7th day of life lead to investigation using gas chromatography, showing the diagnosis of propionic acidemia. Protein-restricted diet and exchange transfusions were not successful. After attacks of apnea and bradycardia, the patient died on her 9th day of life. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-07-16 09:30:46 |
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