Why the study?
Does the metabolic error in Refsum's disease involve a block in the degradation of phytanic acid?
Population
2 patients with Refsum's disease and 7 normal control subjects (n=9)
Comparison
Orally administered tracer doses of phytol-U-C… vs Normal control subjects
Design
Case-control
Follow-up
many days
Authors
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Supports block in phytanic acid degradation in Refsum's disease; leaves open whether dietary restriction improves outcomes.
Does the metabolic error in Refsum's disease involve a block in the degradation of phytanic acid?
Patients with Refsum's disease have a relative block in the degradation of phytanic acid, which is primarily of exogenous (dietary) origin.
Steinberg et al. (1967) studied this question.
Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context: