Phenotype of adult Refsum disease due to a defect in peroxin 7.
case_report · Level V
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- Record sourced from PubMed, PMID 17325280.
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Abstract
The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, we propose the subdivision of ARD into type 1 and type 2, depending on which gene is defective.
Medical subject headings
- Phenotype
- Receptors, Cytoplasmic and Nuclear
- Refsum Disease