Myristate beta-oxidation activity measurements performed with tritiated-myristate in cultured skin fibroblasts measures the flux through the mitochondrial beta-oxidation system. It can be used to investigate whether a patient suffers from a mitochondrial medium-chain fatty acid oxidation defect (e.g. MCADD or MADD). In case of a reduced myristate beta-oxidation activity additional investigations have to be performed to identify the underlying defect (e.g. palmitate loading test, enzyme activity assays or molecular analysis). Note that in mild deficiencies the flux through the mitochondrial beta-oxidation system can be normal. In addition, myristate beta-oxidation activity measurement can be performed to study the effect of mutations in genes encoding the different β-oxidation enzymes on the flux through the mitochondrial β-oxidation system. This information can be used for therapeutic strategies.
€ 750 for myristate β-oxidation measurement plus one single β-oxidation enzyme activity measurement.
€ 950 for myristate β-oxidation measurement and palmitate loading test.
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.