Long-term follow-up with filter paper samples in patients with propionic acidemia.

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 drie

SUBMITTER: Stanescu S 

PROVIDER: S-EPMC7802619 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature