Description

Phytanoyl CoA hydroxlase deficiency can be measured by quantifying the release of 14CO2 (from 1-14C) phytanate substrates added to cultured fibroblasts. PMID: 2463966 This test is performed to investigate peroxisomal breakdown of branched-chain fatty acids and can be helpful in characterizing not only refsum disease (phytanoyl-CoA hydroxlase deficiency) but also generalized peroxisomal biogenesis disorders and peroxisomal alpha and beta oxidation disorders. Source: Regenstrief LOINC

Basic Part Properties

Part Name
Phytanoyl CoA hydroxlase
Part Display Name
Phytanoyl CoA hydroxlase
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-11-18
Construct for LOINC Short Name
PhyH

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP203307-6

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)植烷酰辅酶 A 羟化酶
Synonyms: 植烷酰 CoA 羟化酶
es-ESSpanish (Spain)Fitanoil CoA hidroxilasa
it-ITItalian (Italy)Phytanoyl CoA idrossilasi
nl-NLDutch (Netherlands)fytanoyl-CoA-hydroxlase
fr-FRFrench (France)Phytanoyl CoA hydroxylase
pl-PLPolish (Poland)Hydroksylaza fitanoilo-CoA
el-GRGreek (Greece)Φυτανοϋλο-CoA υδροξλάση
Synonyms: Φυτανοϋλο-CoA υδροξλάση