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Table 3 Metabolic profiles in peroxisomal disease

From: MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

 

X-linked adrenoleukodystrophy

Refsum disease

AMACR deficiency

VLCFAs

↑↑

-

-

Phytanic acid

-

↑↑↑

(↑)

Pristianic acid

-

-

↑↑↑

THCA

-

-

↑↑

DHCH

-

-

↑↑

  1. Metabolic profiles in blood. VLCFAs = very-long-chain fatty acids, DHCA/THCA = di- / tri-hydroxycholestanoic acids; the bile-acid intermediates.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172