About The Medical Condition Refsums Disease, Infantile
Find the definition of the medical term Refsums Disease, Infantile. Refsums Disease, Infantile defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Refsums Disease, Infantile
| Refsums Disease, Infantile Medical Condition |
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What's The Definition Of The Medical Condition Refsums Disease, Infantile?
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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