MeSH Browser

MeSH Heading: Refsum Disease
Tree Number(s): C10.228.140.163.100.813; C10.500.300.780; C10.574.500.495.780; C10.668.829.800.300.780; C16.131.666.300.780; C16.320.400.375.780; C16.320.565.189.813; C16.320.565.663.760; C18.452.132.100.813; C18.452.648.189.813; C18.452.648.663.760
Unique ID: D012035
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D012035
Annotation: do not confuse with REFSUM DISEASE, INFANTILE
Scope Note: 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.
Entry Version: REFSUM DIS
Entry Term(s): 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; Refsum Syndrome; Refsum's Disease; Refsum's Syndrome; Refsum-Thiebaut Syndrome
Public MeSH Note: 1996; see REFSUM'S SYNDROME 1991-1995, see REFSUM DISEASE 1964-1990
History Note: 1996 (1964)
Date Established: 1967/01/01
Date of Entry: 1999/01/01
Revision Date: 2023/04/05

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Nervous System Diseases [C10]
- Nervous System Malformations [C10.500]
  - Hereditary Sensory and Motor Neuropathy [C10.500.300]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]
    - Hereditary Sensory and Motor Neuropathy [C10.574.500.495]

Nervous System Diseases [C10]
- Neuromuscular Diseases [C10.668]
  - Peripheral Nervous System Diseases [C10.668.829]
    - Polyneuropathies [C10.668.829.800]
      - Hereditary Sensory and Motor Neuropathy [C10.668.829.800.300]
        
        Alstrom Syndrome [C10.668.829.800.300.099]
        
        Charcot-Marie-Tooth Disease [C10.668.829.800.300.200]
        
        Giant Axonal Neuropathy [C10.668.829.800.300.490]
        
        Refsum Disease [C10.668.829.800.300.780]
        
        Spastic Paraplegia, Hereditary [C10.668.829.800.300.820]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Nervous System Malformations [C16.131.666]
    - Hereditary Sensory and Motor Neuropathy [C16.131.666.300]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - Hereditary Sensory and Motor Neuropathy [C16.320.400.375]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Peroxisomal Disorders [C16.320.565.663]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Peroxisomal Disorders [C18.452.648.663]

Refsum Disease Preferred

Concept UI: M0018709
Scope Note: 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.
Terms: Refsum Disease Preferred Term
Term UI T035826
Date01/01/1999
LexicalTag EPO
ThesaurusID; Refsum's Disease
Term UI T035825
Date08/16/1994
LexicalTag EPO
ThesaurusID; Refsum's Syndrome
Term UI T035827
Date01/12/1990
LexicalTag EPO
ThesaurusID NLM (1991); Refsum-Thiebaut Syndrome
Term UI T371735
Date11/10/1999
LexicalTag NON
ThesaurusID NLM (2000); Refsum Syndrome
Term UI T842379
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014)

Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency Narrower

Hereditary Motor And Sensory Neuropathy IV Narrower

Adult Refsum Disease Narrower

Classic Refsum Disease Narrower

Heredopathia Atactica Polyneuritiformis Narrower

Phytanic Acid Oxidase Deficiency Narrower

Refsum Disease MeSH Descriptor Data 2025