Ataxic disorder with retinitis pigmentosa, neuropathy, deafness, and ichthyosis; autosomal recessive condition with onset in middle childhood to adolescence. Cause is defect in phylanic acid oxidation. Screening test involves serum phytanic acid.
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Ataxic disorder with retinitis pigmentosa, neuropathy, deafness, and ichthyosis; autosomal recessive condition with onset in middle childhood to adolescence. Cause is defect in phylanic acid oxidation. Screening test involves serum phytanic acid.