Long-term follow-up with filter paper samples in patients with propionic acidemia
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Sinziana Stanescu1, Amaya Belanger-Quintana1, Borja Manuel Fernández-Felix2
1Unidad de Enfermedades Metabólicas Hospital Universitario Ramón y Cajal, IRYCIS, CIBER-OBN Madrid Spain.
Insights
Filter paper blood and urine samples are effective for monitoring propionic acidemia (PA), a rare inherited metabolic disorder. This method accurately reflects patient metabolic status, simplifying routine follow-up care.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Propionic acidemia (PA) is an inherited metabolic disorder resulting from propionyl CoA carboxylase deficiency.
- Neonatal diagnosis is common due to severe metabolic acidosis and hyperammonemia.
- Regular blood and urine analysis (3-4 times/year) is crucial for managing PA patients.
Purpose of the Study:
- To evaluate the utility of filter paper samples for monitoring propionic acidemia patients.
- To assess the correlation between filter paper analysis and traditional plasma/urine analysis.
Main Methods:
- A prospective study analyzed monthly filter paper blood (dried blood spot - DBS) and urine samples from 10 PA patients over 33 months.
- Compared DBS and urine dried spot samples with plasma and liquid urine specimens.
- Analyzed odd-numbered long-chain fatty acids (OLCFAs) in plasma and odd number acylcarnitines in DBS.
Main Results:
- 163 DBS and 119 urine dried spot samples were analyzed.
- A strong correlation was observed between filter paper samples and plasma/urine for key PA parameters during stable and decompensated states.
- Significant correlation found between plasma OLCFAs and DBS odd number acylcarnitines.
Conclusions:
- Filter paper blood and urinary samples are reliable for monitoring propionic acidemia patients.
- These samples accurately reflect the metabolic status of individuals with PA.
- This method offers a viable alternative for routine follow-up of PA patients.
Background:
Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis at least 3 to 4 times per year, depending on age and metabolic control.
Methods:
We designed a prospective study in which we investigated the results from blood and urinary samples collected monthly in filter paper from 10 PA patients followed in a single metabolic reference center from January 2015 to September 2017. The aim of this study was to evaluate the usefulness of filter paper samples in the follow-up of the PA patients.
Results:
During the follow-up period, 163 dried blood spot (DBS) and 119 urine dried spot samples were analyzed and compared with 160 plasma and 103 liquid urine specimens; 64 specimens of plasma were analyzed for odd-numbered long-chain fatty acids (OLCFAs). A total of 40 metabolic crises, 18 of them with hyperammonemia were documented. We observed a strong correlation between the filter paper and the urine/plasma samples for the main PA parameters both in stable metabolic conditions as well as in acute decompensations. Also, there was a strong correlation between OLCFAs measured in plasma and quantification of odd number acylcarnitines in DBS.
Conclusions:
We conclude that filter paper blood and urinary samples can be used for the follow-up of the patients with PA, correctly reflecting their metabolic situation.
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