Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

Abstract

Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal.

PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

“…Case management of infantile Refsum disease (IRD) is multidisciplinary, but treatment is still only symptomatic (Sa) [ 22 ]. Reports on the impact of treatment on disease progression are limited, probably due to the small number of cases.…”

“…However, some research [Sa, Moser] has shown that dietary changes lead to specific biochemical effects. Further studies are needed to evaluate the impact of a low-phytanic-acid diet in the recommended management of patients with IRD [ 22 , 23 ].…”

Choroby peroksysomalne

“…Natomiast kwas fitanowy pochodzi wyłącznie ze źródeł egzogennych, stąd zastosowanie diety eliminacyjnej powoduje normalizację poziomu tego biomarkera w surowicy i co najważniejsze koresponduje z poprawą funkcji neurologicznych [57,58].…”

Spectral Domain Optical Coherence Tomography (SD-OCT) Findings in Refsumʼs Disease

“…With reduction of phytanic acid levels developmental progression of neurological signs can be slowed or prevented. Monitoring of the treatment effect is possible in the short term by the quantification of serum phytanic acid [4]. Besides the general clinical development, objective and easy-to-apply methods for the evaluation of long-term treatment effects are not established.…”