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Long‐term follow‐up with filter paper samples in patients with propionic acidemia
- Source :
- JIMD Reports
- Publication Year :
- 2020
- Publisher :
- John Wiley & Sons, Inc., 2020.
-
Abstract
- 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.
- Subjects :
- Research Report
follow‐up
propionic acidemia
medicine.medical_specialty
business.industry
Endocrinology, Diabetes and Metabolism
Urinary system
Metabolic acidosis
Hyperammonemia
Research Reports
Urine
medicine.disease
Biochemistry, Genetics and Molecular Biology (miscellaneous)
Gastroenterology
Dried blood spot
Internal medicine
Metabolic control analysis
Internal Medicine
medicine
Propionic acidemia
business
Prospective cohort study
filter paper samples
Subjects
Details
- Language :
- English
- ISSN :
- 21928312 and 21928304
- Volume :
- 57
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- JIMD Reports
- Accession number :
- edsair.doi.dedup.....6020ed453a015ee4277f1260df713bac