Global DARE Foundation announces that it has entered in to a collaborative agreement with the Kennedy Krieger Institute (KKI) of Baltimore to carry out fatty acid testing in food items. The Foundation will provide the funding support for the testing of phytanic acid, phytol and phytyl fatty esters for up to 60 food items. Collaborating with Kennedy Krieger Institute enables the Foundation to harness many years of rich experience of testing fatty acids in disorders of peroxisomal metabolism, including Refsum Disease.

Adult Refsum disease is a rare metabolic disorder caused by a number of faulty genes which result in an enzyme deficiency required to metabolize phytanic acid. If not degraded, phytanic acid accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but found in some foods as a result of the bacterial fermentation of green plants or algae.

The main symptoms of Refsum Disease are retinitis pigmentosa, anosmia, peripheral nephropathy and hearing loss. As there are currently no curative therapies available the main long-term treatment is through dietary management. A diet comprised of foods low in phytanic acid content is suspected to slow the progression of some of the more debilitating disease symptoms.

It’s been almost 30 years since initial phytanic acid testing in approximately 150 food items was published and formed the basis for a low phytanic acid diet (Brown et al., 1993). Since then farming practices and food manufacturing processes have changed dramatically as well new precursors to phytanic acid have been identified. Ann Moser will conduct this fatty acid testing at the Peroximsomal Disease Laboratory at KKI and expects to have results available toward the end of the year. Updating previous testing and the potential to expand diet choices will be a huge win for people with Refsum Disease.