Adenine phosphoribosyltransferase deficiency: a simple diagnostic test

Area of Science:

• Biochemistry
• Clinical Diagnostics
• Metabolic Disorders

Background:

• Adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder.
• Accurate diagnosis is crucial for managing purine metabolism abnormalities.
• Existing diagnostic methods may be complex or inaccessible.

Purpose of the Study:

• To describe a simple, novel method for diagnosing APRT deficiency using urine.
• To evaluate the efficacy of this new diagnostic test.

Main Methods:

• Thin-layer chromatography (TLC) of 1 microliter of urine.
• Detection of adenine via its blue phosphorescence at liquid nitrogen temperature.
• Characterization of adenine's physicochemical properties (RF value, phosphorescence characteristics).

Main Results:

• Adenine was readily detected in urine from an APRT-deficient child.
• Adenine was absent in urine from 116 control subjects, including healthy individuals and patients with various conditions.
• The test correctly identified 3 out of 10 blind-tested urine samples as positive for APRT deficiency.

Conclusions:

• A simple, sensitive urine test for diagnosing APRT deficiency is presented.
• This phosphorescence-based method shows promise as a reliable diagnostic tool.
• The test's specificity was confirmed against a diverse control group.