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infantile refsum disease

Medical Definition

An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of refsum disease. features include mental retardation; sensorineural hearing loss; osteoporosis; and severe liver damage. it can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of peroxisomes.
Related Codes (1)
Code
Description
Billable
Details
G60.1Refsum's disease

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