Phytanic acid α-oxidation

Disease

Refsum disease, rhizomelic chondrodysplasia punctata (RCDP) type 1 and Zellweger spectrum disorders.

Description

Fatty acid alpha-oxidation is measured with radiolabeled phytanic acid, and is deficient in Refsum disease (phytanoyl-CoA hydroxylase deficiency) as well as in rhizomelic chondrodysplasia punctata (RCDP) type 1 (PEX7 defect) and in Zellweger spectrum disorders.

OMIM

Method

Radiochemistry

Price

€ 750
€ 950 for full biochemical peroxisomal screening in cultured fibroblasts.

Materials:


Cultured skin fibroblasts

  • Conditions: Room temperature.
  • Specifics: Grow the fibroblasts to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) supplemented with 10% serum and 1% penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with identifying information (name of patient and date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
  • TAT: 3 months.