REFSUM DISEASE

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Disease	REFSUM DISEASE
Synonym	PHYTANIC ACID STORAGE DISEASE
OMIM	266500 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	phytanoyl-CoA dioxygenase (phytanoyl-CoA hydroxylase) Detailed enzyme information on www.expacy.ch
Gene locus	10pter-p11.2, 6q22-q24 ?
genetests.org	search search on genetest.org by MIM 266500 search search on genetest.org by REFSUM+DISEASE Testing - View a listing of laboratories that provide clinical testing for this disorder Reviews - Read the GeneReview for this disorder Resources - View and print rele
Summary	rare (>200 cases) autosomal recessive two genes, PHYH/PAHX (45%) and PEX7, have been identified to cause Refsum disease
Clinical symptoms	anosmia ataxia cardiomyopathy cataract hearing defect, deafness ichthyosis muscle weakness neurological deterioration night blindness nystagmus onset, adolescent onset, adult onset, child peripheral neuropathy retinitis pigmentosa skeletal changes
Abnormal Findings in fibroblasts	Phytanic acid oxidation \| Significant : -10.00 % of normal
Abnormal Findings in plasma	Phytanic acid Normal: 0.00-4.00 µg/ml \| Significant : 40.00-2000.00 µg/ml Pristanic acid \| Significant : - decreased
Abnormal Findings in spinal fluid	Protein, total Normal: 10.00-30.00 mg/dl \| Significant : - increased
Treatment	phytanic acid restricted diet therapeutic apheresis
Literature	There are 12 publications available. Click here to open the relevant REFSUM DISEASE publications
Ramedis Case reports with long term followup	There are 1 patient data available. Click here to open the list of REFSUM DISEASE patients documented in Ramedis database