What does refsum disease mean?
Definitions for refsum disease
ref·sum dis·ease
This dictionary definitions page includes all the possible meanings, example usage and translations of the word refsum disease.
U.S. National Library of Medicine
Refsum Disease
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.
Numerology
Chaldean Numerology
The numerical value of refsum disease in Chaldean Numerology is: 5
Pythagorean Numerology
The numerical value of refsum disease in Pythagorean Numerology is: 9
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"refsum disease." Definitions.net. STANDS4 LLC, 2024. Web. 25 Apr. 2024. <https://www.definitions.net/definition/refsum+disease>.
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