81763-5

LOINC 2.82

Phytanate and pristanate panel - Serum or Plasma

Phytanate + pristanate Pnl SerPl

Definition

  • This panel includes results for phytanate and pristanate to investigate various peroxisomal disorders, including Zellweggers syndrome, Refsum disease, and adrenomyleoneuropathy, in which there is a defect in the metabolism or processing of long chain fatty acids. Symptoms range from life-threatening acute adrenal failure and severe hypotonia in neonates to progressive neurological deterioration and peripheral neuropathy in adults.

Component

  • Phytanate & pristanate panel

Specimen / system

  • Ser/Plas

Class

  • PANEL.CHEM

Property

  • -

Scale

  • Qn

Related names

  • 2,6,10,14-tetramethylpentadecanoate; 3,7,11,15-tetramethylhexadecanoate; C15:0(CH3)4; C16:0(CH3)4; Chemistry; Pan; PANEL.CHEMISTRY; Panl; Phytanate + pristanate Pnl; Phytanic acid; Pl; Plasma; Plsm; Pnl; Point in time; Pristanic acid; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR

Index terms

  • 2,6,10,14-tetramethylpentadecanoate
  • 3,7,11,15-tetramethylhexadecanoate
  • C15:0(CH3)4
  • C16:0(CH3)4
  • Chemistry
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Phytanate & pristanate panel
  • Phytanate + pristanate Pnl
  • Phytanic acid
  • Pl
  • Plasma
  • Plsm
  • Pnl
  • Point in time
  • Pristanic acid
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • SerP
  • SerPl
  • SerPlas
  • Serum
  • Serum or plasma
  • SR