About The Medical Condition Infantile Refsum Disease
Find the definition of the medical term Infantile Refsum Disease. Infantile Refsum Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Infantile Refsum Disease
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What's The Definition Of The Medical Condition Infantile Refsum Disease?
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; infantile Refsum disease; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
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