Last update 08 May 2025

Refsum Disease, Infantile

Basic Info

Synonyms
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL, Disease, Infantile Refsum, Disease, Infantile Refsum's
+ [36]
Introduction
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.

Analysis

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