Refsums sjukdom (Refsum Disease)

Refsums sjukdom

En autosomal recessiv familjär störning som vanligtvis uppvisar i barndomen med POLYNEUROPATI; SENSORINEURAL HÖRSELNEDSÄTTNING; ICHTHYOSIS; ATAXI; RETINITIS PIGMENTOSA; och CARDIOMYOPATHIES. (Från Joynt, klinisk neurologi, 1991, Ch37, p58-9; Rev Med Interne 1996; 17 (5) :391-8) Detta tillstånd kan orsakas av mutation i gener som kodar för peroxisomalt fytanoyl-CoA-hydroxylas eller proteiner associerade peroxisomalt membran, vilket leder till nedsatt katabolism av FYTANSYRA i PEROXISOMER.

Förklaring på engelska

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.

Synonym, svenska: Refsums syndrom; Refsum-Thiebauts syndrom; Heredopathia atactica polyneuritiformis

Synonym, engelska: Disease, Refsum; Hereditary Motor and Sensory Neuropathy Type IV; Refsum Disease, Adult; Adult Refsum Diseases; Disease, Adult Refsum; Diseases, Adult Refsum; Refsum Diseases, Adult; Phytanic Acid Oxidase Deficiency; HMSN IV; HMSN IVs; Hereditary Motor And Sensory Neuropathy IV; Hereditary Type IV Motor and Sensory Neuropathy; Neuropathy, Hereditary Motor and Sensory, Type IV; Heredopathia Atactica Polyneuritiformis; Polyneuritiformis, Heredopathia Atactica; HMSN Type IV; Refsum’s Disease; Disease, Refsum’s; Refsums Disease; Refsum’s Syndrome; Refsums Syndrome; Syndrome, Refsum’s; Phytanic Acid Storage Disease; Hemeralopia Heredoataxia Polyneuritiformis; Heredoataxia Polyneuritiformis, Hemeralopia; Polyneuritiformis, Hemeralopia Heredoataxia; Refsum-Thiebaut Syndrome; Refsum Thiebaut Syndrome; Refsum-Thiebaut Syndromes; Syndrome, Refsum-Thiebaut; Syndromes, Refsum-Thiebaut; Hereditary Motor and Sensory Neuropathy, Type IV; Adult Refsum Disease; Classic Refsum Disease; Refsum Syndrome; Syndrome, Refsum; HMSN 4; Refsum Disease, Classic; Classic Refsum Diseases; Disease, Classic Refsum; Diseases, Classic Refsum; Refsum Diseases, Classic; Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency; Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency; Refsum Disease, Phytanic Acid Oxidase Deficiency

Svensk term Refsums sjukdom
Synonym på svenska Refsums syndrom; Refsum-Thiebauts syndrom; Heredopathia atactica polyneuritiformis
Synonym på engelska Disease, Refsum; Hereditary Motor and Sensory Neuropathy Type IV; Refsum Disease, Adult; Adult Refsum Diseases; Disease, Adult Refsum; Diseases, Adult Refsum; Refsum Diseases, Adult; Phytanic Acid Oxidase Deficiency; HMSN IV; HMSN IVs; Hereditary Motor And Sensory Neuropathy IV; Hereditary Type IV Motor and Sensory Neuropathy; Neuropathy, Hereditary Motor and Sensory, Type IV; Heredopathia Atactica Polyneuritiformis; Polyneuritiformis, Heredopathia Atactica; HMSN Type IV; Refsum’s Disease; Disease, Refsum’s; Refsums Disease; Refsum’s Syndrome; Refsums Syndrome; Syndrome, Refsum’s; Phytanic Acid Storage Disease; Hemeralopia Heredoataxia Polyneuritiformis; Heredoataxia Polyneuritiformis, Hemeralopia; Polyneuritiformis, Hemeralopia Heredoataxia; Refsum-Thiebaut Syndrome; Refsum Thiebaut Syndrome; Refsum-Thiebaut Syndromes; Syndrome, Refsum-Thiebaut; Syndromes, Refsum-Thiebaut; Hereditary Motor and Sensory Neuropathy, Type IV; Adult Refsum Disease; Classic Refsum Disease; Refsum Syndrome; Syndrome, Refsum; HMSN 4; Refsum Disease, Classic; Classic Refsum Diseases; Disease, Classic Refsum; Diseases, Classic Refsum; Refsum Diseases, Classic; Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency; Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency; Refsum Disease, Phytanic Acid Oxidase Deficiency
Engelsk term Refsum Disease
MESH ID D012035

MESH-termer, förklaringar och definitioner kommer från NIH NLM. Förklaringar på svenska är gjort av KIB och MEDE.