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Reduced phytanic acid oxidase activity in cultured fibroblasts

MedGen UID:
1841996
•Concept ID:
C5826893
•
Finding
Synonyms: Decreased phytanoyl-CoA hydroxylase activity; PhyH activity low in fibroblasts
 
HPO: HP:4000163

Definition

Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced phytanic acid oxidase activity in cultured fibroblasts

Conditions with this feature

Phytanic acid storage disease
MedGen UID:
11161
•Concept ID:
C0034960
•
Disease or Syndrome
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.
See: Condition Record
Phytanic acid storage disease

Recent clinical studies

Diagnosis

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada)
Neurology 2014 Mar 18;82(11):963-8. Epub 2014 Feb 19 doi: 10.1212/WNL.0000000000000219. PMID: 24553428Free PMC Article

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