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