Heredopathia atactica polyneuritiformis (HAP) was first described by Refsum in 1946 as an inherited autosomal recessive disorder.1 Its main clinical features are night blindness, peripheral neuropathy, retinitis pigmentosa, cerebellar signs, hearing loss, elevated cerebrospinal fluid proteins, and relapsing and remitting course.
In 1963, Klenk and Kahlke discovered deposits of an abnormal fatty acid (3,7,11,15-tetramethylhexadecanoic or phytanic acid) in the serum and organ lipids of a patient who had died from this disease.2 Since then, it has been shown that a number of patients with this disorder have elevated phytanic acid levels (21 of 45 reported cases3). The experimental data suggest that the accumulating phytanic acid is of exogenous origin.4,5
Animal experiments thus far have shown that a phytol-rich diet results in an increase in the serum and tissue concentration of phytanic acid.6 Though no direct auditory, visual, or neurological deficits were observed, the animals fed
Sahgal V, Olsen WO. Heredopathia Atactica Polyneuritiformis (Phytanic Acid Storage Disease): A New Case With Special Reference to Dietary Treatment. Arch Intern Med. 1975;135(4):585–587. doi:10.1001/archinte.1975.00330040097017
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