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Urinary dicarboxylic acids in X-linked adrenoleukodystrophy.
S Kodama1, H Nishio, T Nakajima
1Department of Pediatrics, Himeji Red Cross Hospital, Hyogo, Japan.
Acta Paediatrica Japonica : Overseas Edition
|June 1, 1990
Summary
Urinary dicarboxylic acid levels in X-linked adrenoleukodystrophy (X-ALD) showed no specific patterns. This suggests X-ALD does not disrupt dicarboxylic acid metabolism, unlike other related disorders.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Genetics
Background:
- X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder.
- Peroxisomal dysfunction can affect fatty acid metabolism.
- Dicarboxylic acids are products of fatty acid metabolism.
Purpose of the Study:
- To investigate the urinary excretion profile of dicarboxylic acids in patients with X-ALD.
- To determine if X-ALD exhibits a specific dicarboxylic acid metabolic signature.
- To compare X-ALD's dicarboxylic acid profile with other related peroxisomal disorders.
Main Methods:
- Analysis of urinary dicarboxylic acid excretion in X-ALD patients.
- Comparison of dicarboxylic acid profiles between X-ALD, Zellweger syndrome, and neonatal adrenoleukodystrophy.
- Quantification of medium-chain and long-chain dicarboxylic acids.
Main Results:
- The dicarboxylic acid profile in X-ALD patients did not reveal any specific abnormalities.
- Excretion levels of medium-chain dicarboxylic acids (even and odd carbon numbers) were within normal ranges.
- Dicarboxylic acids with more than 10 carbon atoms were notably absent in X-ALD urine samples.
Conclusions:
- The urinary dicarboxylic acid profile in X-ALD is not distinct and falls within normal ranges.
- Findings suggest that the beta-oxidation system for dicarboxylic acids remains functional in X-ALD.
- X-ALD does not appear to cause the characteristic dicarboxylic aciduria seen in other peroxisomal disorders.