Related MeSH Hierarchy (11)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Peroxisomal Disorders » Refsum Disease
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Refsum Disease
Diseases [C] » Nervous System Diseases [C10] » Nervous System Malformations » Hereditary Sensory and Motor Neuropathy » Refsum Disease
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Hereditary Sensory and Motor Neuropathy » Refsum Disease
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Peripheral Nervous System Diseases » Polyneuropathies » Hereditary Sensory and Motor Neuropathy » Refsum Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Nervous System Malformations » Hereditary Sensory and Motor Neuropathy » Refsum Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Hereditary Sensory and Motor Neuropathy » Refsum Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Refsum Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Peroxisomal Disorders » Refsum Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Refsum Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Refsum Disease
Description
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
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Organization Involved with Phase 3 Indications (2)
Organization Involved with Phase 2 Indications (1)
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UMLS Data
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