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 |
252 |
| Diagnosis |
PROPIONIC ACIDEMIA (MIM 606054) |
| Gender |
f |
| Age of symptoms onset |
2 Day(s) |
| Age of diagnosis |
3.00 Day(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Lithuania |
| Ethnic origin |
Mother: Lithuanian, Father: Lithuanian |
| History |
The female patient was the third child of a non-consanguineous healthy Lithuanian couple. Two older children had died within the first week of life .
Soon after birth the baby presented with poor feeding, vomiting, hypotonia, drowsiness, and respiratory problems. After 48 hours, the patient developed coma. Arterial blood gas analysis revealed a severe decompensated metabolic acidosis ( pH 7.17; pCO2 32.2 mmHg; HCO3 16.7 mmol/l; BE -10.2 mmol/l).
In spite of treatment, the baby died on the 6th day of life. Mass spectrometry of urine, taken on the 4th day of life, showed increased levels of N-propionylglycine, 3-methyl-2-oxovaleric-, 3-hydroxy-2-methylbutyric-,3-hydroxy-n-valeric-,3-hydroxypropionic-, and methylcitric acids.
From this characteristic metabolic pattern the diagnosis of propionic acidemia is evident. Unfortunately, no material was collected for enzymatic or molecular genetic investigations. |
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| Author |
Willy Lehnert |
| Hospital |
University Childrens Hospital Freiburg |
| Coauthor(s) |
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| Date of entry |
2001-07-16 11:43:32 |
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