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Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion

MedGen UID:
1052408
Concept ID:
CN378443
Finding
HPO: HP:6001095

Definition

Concentration of pristanic acid in the blood circulation above the upper limit of normal. This finding can be observed in Zellweger syndrome. Note that branched-chain fatty acid accumulation depends on dietary intake of phytanic acid, which is minimal in formula- and breast-fed infants. Thus, phytanic and pristanic acid levels are normal in a neonate with Zellweger spectrum disorder. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating pristanic acid concentration following branched-chain fatty acid ingestion

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