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Urinary organic acids in peroxisomal disorders: a simple screening method.

S Yamaguchi¹, M Iga, M Kimura

¹Department of Pediatrics, Shimane Medical University, Izumo, Japan. seijiyam@shimane-med.ac.jp

Journal of Chromatography. B, Biomedical Sciences and Applications

|August 3, 2001

Summary

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Urinary organic acid analysis effectively screens for peroxisomal disorders. Key findings include non-ketotic dicarboxylic aciduria and elevated 2-hydroxysebacate in patients with conditions like Zellweger syndrome.

Area of Science:

Biochemistry
Metabolic Disorders
Clinical Chemistry

Background:

Peroxisomal disorders are a group of rare genetic diseases.
These disorders affect various metabolic pathways, including fatty acid oxidation.
Accurate diagnosis is crucial for patient management.

Purpose of the Study:

To investigate the utility of urinary organic acid analysis in diagnosing peroxisomal disorders.
To identify specific metabolic markers associated with these conditions.

Main Methods:

Gas chromatography-mass spectrometry (GC-MS) was employed.
Urinary organic acids were analyzed in 20 Japanese patients.
Longitudinal analysis was performed in two Zellweger syndrome patients.

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Main Results:

Non-ketotic dicarboxylic aciduria with an elevated sebacate/adipate molar ratio was found in 19/20 patients.
Elevated 2-hydroxysebacate and epoxydicarboxylic acids were observed in 13 and 18 patients, respectively.
Tyrosyluria was a consistent finding across all patients.

Conclusions:

Urinary organic acid profiling using GC-MS is a valuable screening tool for peroxisomal disorders.
Specific organic acid abnormalities can aid in the diagnosis of conditions like Zellweger syndrome.
Early detection through metabolic screening facilitates timely intervention.