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

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.