Phytanic acid in patients with Refsum's syndrome and response to dietary treatment

Steinberg, Daniel

doi:10.1001/archinte.125.1.75

Cited by 32 publications

(13 citation statements)

References 44 publications

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“…The type of clinical improvement ob tained here is concordant with other reports, whether combined treatment [2][3][4][5] or diet alone [1,6,9] is used. Improvement is ob served in neuropathy, cerebellar ataxia (to a lesser extent), ichthyosis, cardiac distur bances.…”

Section: Discussionsupporting

confidence: 91%

“…Several studies [1,2,6,9] have shown a significant improvement in motor conduc tion velocity (MCV) by treatment. This im provement paralleled the decrease in serum phytanic acid and the clinical recovery.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, observed MCV are in the range of values obtained for similar phytanic acid levels (table I) and two other reports [4,5] dealing with similar MCV val ues did not show any change in velocity despite unquestionable clinical improve ment. Even though a further decrease in se rum phytanic acid might allow more signifi cant changes to appear, in two studies [1,6], in which the phytanic acid level was brought down to less than 1 m g/100 ml, ulnar nerve MCV never exceeded 30 m/s.…”

Section: Discussionmentioning

confidence: 99%

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Refsum’s Disease: Management by Diet and Plasmapheresis

Hungerbühler¹,

Meier

Rousselle³

et al. 1985

Eur Neurol

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A case of Refsum’s disease treated by serial plasma exchanges together with a moderate low phytanate diet is reported. Serial plasma exchanges determined a rapid significant clinical improvement (neuropathy and cerebellar ataxia) that allowed immediate return to full-time employment. The initial improvement could be maintained by intermittent serial plasmapheresis despite partial failure of the initially introduced low phytanate diet bringing 20 mg phytanic acid daily. A new dietary regimen bringing 10 mg phytanic acid was later introduced that was well tolerated. No liquid formula was used. The clinical improvement was clearly correlated to a fall in serum phytanic acid from 45.3 to 16.2 mg/100 ml.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Refsum’s Disease: Management by Diet and Plasmapheresis

Hungerbühler¹,

Meier

Rousselle³

et al. 1985

Eur Neurol

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“…4,12,15 Hansen reported that the progress of more chronic signs such as retinitis pigmentosa may also be halted. 17 Typically patients with Refsum disease first present before the age of 20 years with nyctalopia.…”

mentioning

confidence: 99%

Refsum disease: The presentation and ophthalmic aspects of Refsum disease in a series of 23 patients

Claridge

Gibberd

Sidey

1992

Eye

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SUMMARYRefsum disease (heredopathia atactica polyneuritifor mis) was first described in 1946 and is a rare recessively Refsum's disease, also known as heredopathia atactic a polyneuritiformis is a rare cause of retinitis pigmentosa. It was first described by Sigvald Refsum in Norway in 1945.1 By 1984 there were at least 70 cases known2 and since then there have been over 30 more cases described. The disease is inherited as an autosomal recessive condition. Refsum described four cardinal manifestations: retinitis pigmen tosa, a chronic polyneuropathy, ataxia with other cerebellar signs, and a raised CSF protein in the absence of an increased cell count. 2 Additional features include anosmia, cataract, miosed unreactive pupils, deafness, ichthyosis, skeletal abnormalities and cardiac arrhythmias which have been postulated to be the cause of sudden death in acute exacerbations.3A In 1963 Klenk and Kahlke reported an association with raised blood serum phytanic acid

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“…The relative sparing of the peripheral sensory fibers re mains an important differential datum [Ca ruso et al, 1983;D'Angelo et al, 1980], What is absolutely specific to Refsum's disease and what marks it off from other dis eases with clinical and instrumental similari ties is the biochemical defect evidenced by the accumulation of phytanic acid [Refsum, 1975a;Steinberg, 1978]. Evidence of the specificity of the accumulation of this fatty acid in subjects with Refsum's disease is the fact that only 1 case has been reported in which significantly above-normal values were not accompanied by any clinical symp toms [Thiebaut et al, 1961], According with data from literature [Djupesland et al, 1983;Eldjarn et al, 1966;Masler-Thomas et al, 1980a, b;Steinberg et al, 1970], in our case a phytanic acid-free diet has been started. Relatives report an improvement in patient's clinical symptom atology.…”

Section: Discussionmentioning

confidence: 94%

Atypical Phenotype of Refsum’s Disease: Clinical, Biochemical, Neurophysiological and Pathological Study

Dotti¹,

Rossi²,

Rizzuto³

et al. 1985

Eur Neurol

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The authors describe the clinical, biochemical, electrophysiological and ultra-structural study of a case of Refsum’s disease whose phenotype suggested other hereditary ataxias. Due to the presence of Babinski sign and optic atrophy and the absence of retinitis pigmentosa, this case can be considered atypical. Electrophysiological and ultrastructural findings confirm the variability of peripheral lesions in this hereditary polyneuropathy.

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Phytanic acid in patients with Refsum's syndrome and response to dietary treatment

Cited by 32 publications

References 44 publications

Refsum’s Disease: Management by Diet and Plasmapheresis

Refsum’s Disease: Management by Diet and Plasmapheresis

Refsum disease: The presentation and ophthalmic aspects of Refsum disease in a series of 23 patients

Atypical Phenotype of Refsum’s Disease: Clinical, Biochemical, Neurophysiological and Pathological Study

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