1024 Acidemia without Acidosis a Typical Presentation of Propionic Acidemia
Background:One of the most common recessively inherited organic acidemeias is the Propionic acidosis (PA) which results from propionyle-CoA carboxylase (PCC) enzyme deficiency. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We reviewed the r...
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| Published in: | Pediatric research Vol. 68; no. Suppl 1; p. 509 |
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| Main Authors: | , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
New York
Nature Publishing Group US
01-11-2010
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| Subjects: | |
| Online Access: | Get full text |
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| Summary: | Background:One of the most common recessively inherited organic acidemeias is the Propionic acidosis (PA) which results from propionyle-CoA carboxylase (PCC) enzyme deficiency. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We reviewed the records of 4 patients who were diagnosed as PA with normal pH. All of them were found to have high ammonia level. Diagnosis was confirmed by tendom MS/MS and urine gas chromatography/mass spectrometry (GC/MS). All of them were treated supportively.
Methods: We retrospectively reviewed the medical records of 24 patients with a confirmed diagnosis of PA, 4 out of them were excluded because of unclear or/and incomplete documentation.
Results: There were four patients who were diagnosed as PA without Acidosis at the time of presentation. They were 3 females and one male. 3 out of them were the product of consanguineous marriage. All of them presented during the first month of life. The first case was referred only because of the significant family history and decreased activity, the second presented with seizures and anemia, the third had septic like picture and pancytopenia and the fourth one presented with respiratory distress and leukocytosis. All of them had normal PH and high serum ammonia. Diagnosis was confirmed by using tandem MS/MS and urine gas chromatography/mass spectrometry.
Conclusion: The presence of hyperammonemia should increase the suspicion of PA diagnosis even in the presence of normal pH. Diagnosis can be confirmed by tandem MS/MS and urine gas chromatography/mass spectrometry. |
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| ISSN: | 0031-3998 1530-0447 |
| DOI: | 10.1203/00006450-201011001-01024 |