LOINC display name : Phytanate and pristanate panel;
LOINC long common name : Phytanate and pristanate panel - Serum or Plasma;
LOINC short name : Phytanate pristanate Pnl SerPl;
LOINC description : 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.;
Has component