Simpler liquid-chromatographic screening for organic acid disorders.

Area of Science:

• Biochemistry
• Analytical Chemistry
• Clinical Diagnostics

Background:

• Organic acidurias are metabolic disorders often diagnosed in neonates and infants.
• Accurate and timely diagnosis is crucial for effective management and preventing severe health consequences.
• Current diagnostic methods, like gas chromatography-mass spectrometry, can be complex and require extensive sample preparation.

Purpose of the Study:

• To develop and evaluate an isocratic cation-exchange chromatographic technique for screening urinary organic acids.
• To assess the utility of this method for early detection of organic acidurias in infants.
• To compare the advantages and limitations of this technique against conventional gas chromatography-mass spectrometry.

Main Methods:

• Isocratic cation-exchange chromatography with ultraviolet detection.
• Analysis of urinary organic acids.
• Comparison of chromatograms from patients with various organic acidurias and a normal infant.

Main Results:

• The developed method allows for the determination of urinary organic acids.
• It demonstrated usefulness in screening urines from neonates and infants with suspected organic aciduria.
• The technique offers easier sample preparation and simultaneous detection of volatile fatty acids compared to gas chromatography.

Conclusions:

• Cation-exchange chromatography provides a valuable screening tool for infant organic acidurias.
• It complements confirmatory methods like gas chromatography-mass spectrometry.
• The method's limitations include lack of identification capabilities and potential issues with non-UV-absorbing compounds.