Structured Summary
Abstract
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
MeSH Record
Classification
Related Concepts
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MeSH Record
Synonyms
45 entry terms
- Refsum Syndrome
- Refsum's Disease
- Refsum's Syndrome
- Refsum-Thiebaut Syndrome
- Disease, Refsum
- Disease, Refsum's
- Refsum Thiebaut Syndrome
- Refsum-Thiebaut Syndromes
- Refsums Disease
- Refsums Syndrome
- Syndrome, Refsum
- Syndrome, Refsum's
- Syndrome, Refsum-Thiebaut
- Syndromes, Refsum-Thiebaut
- Adult Refsum Disease
- Classic Refsum Disease
- HMSN 4
- HMSN IV
- HMSN Type IV
- Hemeralopia Heredoataxia Polyneuritiformis
- Hereditary Motor And Sensory Neuropathy IV
- Hereditary Motor and Sensory Neuropathy Type IV
- Hereditary Motor and Sensory Neuropathy, Type IV
- Hereditary Type IV Motor and Sensory Neuropathy
- Heredopathia Atactica Polyneuritiformis
- Neuropathy, Hereditary Motor and Sensory, Type IV
- Phytanic Acid Oxidase Deficiency
- Phytanic Acid Storage Disease
- Refsum Disease, Adult
- Refsum Disease, Classic
- Refsum Disease, Phytanic Acid Oxidase Deficiency
- Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
- Adult Refsum Diseases
- Classic Refsum Diseases
- Disease, Adult Refsum
- Disease, Classic Refsum
- Diseases, Adult Refsum
- Diseases, Classic Refsum
- HMSN IVs
- Heredoataxia Polyneuritiformis, Hemeralopia
- Polyneuritiformis, Hemeralopia Heredoataxia
- Polyneuritiformis, Heredopathia Atactica
- Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency
- Refsum Diseases, Adult
- Refsum Diseases, Classic
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
do not confuse with REFSUM DISEASE, INFANTILE
MeSH Record
History Note
1996 (1964)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Refsum Disease. Medical Subject Headings (MeSH). 2026. Unique ID D012035. http://id.nlm.nih.gov/mesh/2026/D012035
- Refsum Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Refsum_disease
- Refsum Disease. In: Wikidata. https://www.wikidata.org/wiki/Q177809