Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Refsum Disease”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 91 records · Page 5Linked to original sources
PubMed2001

[Refsum disease].

Explore the source record for details and available documents.

Contraindications↗
PubMed1998

Neurometabolic disease.

Advances in knowledge of neurometabolic disease continues. Of great interest to the neurologist are the definitions of the molecular defects in Niemann-Pick C disease, Refsum disease, and five of the disorders of peroxisome biogenesis, including rhizomelic chondrodysplasia punctata. Duplication of the proteolipid protein gene is the most common molecular abnormality in Pelizaeus Merzbacher disease. Therapies for guanidinoacetate methyltransferase deficiency and for 3-phosphoglycerated dehydrogenase deficiency appear promising. Animal models have been developed for X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in the understanding of pathogenesis and the evaluation of therapy.

Animals↗
PubMed1988

Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.

The infantile and classical forms of Refsum's disease are generally considered to belong to the newly recognized group of peroxisomal disorders. In this study we carried out a detailed investigation into different peroxisomal functions in classical Refsum's disease by analyses of plasma (very long chain fatty acids, di- and trihydroxycoprostanoic acid and pipecolic acid) and cultured skin fibroblasts from the patients (de novo plasmalogen biosynthesis, very long chain fatty acid oxidation and amount of particle-bound catalase). The results obtained indicate that, except for a deficient phytanic acid oxidation, peroxisomal functions were found to be normal in classical Refsum's disease in contrast with the findings in infantile Refsum's disease, in which there is a general impairment of peroxisomal functions. Based on these results it is concluded that peroxisomal biogenesis is normal in classical (but not in infantile) Refsum's disease and that the classical and infantile form of Refsum's disease hence represent distinct entities. Since available evidence suggests that phytanic acid is oxidized in mitochondria rather than in peroxisomes, at least in rat liver, it remains to be established whether classical Refsum's disease is a peroxisomal disorder or not.

Acyltransferases↗
PubMed1982

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.

Three cases of phytanic acid storage disease with symptoms during the first months of life are reported. Hepatomegaly, facial dysmorphia, growth and/or mental retardation and osteopenia were observed in addition to retinitis pigmentosa and neurosensory deafness. The presence of phytanic acid in serum (160-320 mumol/1 (50-100 micrograms/ml)) was accompanied by hypocholesterolaemia. Electron microscopy showed that a storage material had accumulated in mesenchymal and parenchymal liver cells. Lamellar structures were seen in hepatocytes and other storing cells. These inclusions resembled the structures found in plant chloroplasts containing phytol. Some of the clinical and biological data obtained were consistent with Refsum's disease. However, other characteristics such as mental retardation, hepatomegaly, osteopenia, hypocholesterolaemia and hypoalphalipoproteinaemia, as well as the ultrastructural findings in the liver, suggested that our patients' illness was either a phytanic acid storage disease different from the classical form of Refsum's disease, or a more severe early symptomatic form of Refsum's disease. Early diagnosis by phytanic acid assay and electron microscopic liver examination calls for prescription of a low phytanate diet in the hope of improving the child's condition.

Child↗
PubMed2004

Smell testing: an additional tool for identification of adult Refsum's disease.

BACKGROUND: Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated. OBJECTIVE: To investigate the prevalence and degree of olfactory dysfunction in patients with ARD. METHOD: The olfactory function of 16 patients with ARD was assessed using the quantitative University of Pennsylvania Smell Identification Test (UPSIT). RESULTS: All patients had complete anosmia or grossly impaired smell function with a mean UPSIT score of 14.7 (SD 4.7) (normal > 34) despite having been treated with an appropriate diet for a median of 15 years (range 1-25). CONCLUSIONS: Identification of ARD patients can be facilitated by using the UPSIT in combination with the presence of retinitis pigmentosa, even if they have no neurological or bony features. Phytanic acid screening should be performed in any patient manifesting these two signs.

Adolescent↗
PubMed1993

Plasma exchange for Refsum's disease.

Five patients with Refsum's disease were treated by plasma exchange. Lowering the plasma phytanic acid by plasma exchange in patients acutely ill with Refsum's disease produced clinical improvement. Plasma exchange is indicated in Refsum's disease when there is a worsening clinical condition. Occasionally, failure of dietary control of Refsum's disease may necessitate plasma exchange.

Humans↗