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Refsum disease, peroxisomes and phytanic acid oxidation: a review.
Journal of Neuropathology and Experimental Neurology, 2001 Refsum disease was first recognized as a distinct disease entity by Sigvald Refsum in the 1940s. The discovery of markedly elevated levels of the branched-chain fatty acid phytanic acid in certain patients marked Refsum disease as a disorder of lipid ...
Ronald Wanders +2 more
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Human Mutation, 2004 Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an alpha-oxidation deficiency of this branched chain fatty acid in ...
Hans R Waterham +2 more
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Cascade filtration in Refsum's disease
Nephrology Dialysis Transplantation, 1995J B, Siegmund +3 more
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Hypokalaemia in Acute Refsum's Disease
Journal of the Royal Society of Medicine, 1993J P, Dick +3 more
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Refsum's Disease and Refsum's Syndrome
Acta geneticae medicae et gemellologiae, 1974Three observations of heredopathia atactica polyneuritiformis are reported. Two of these correspond to cases of Refsum's disease, though showing a very different evolution. The third one also seems to be a case of Refsum's syndrome, though showing different contradictory clinical and biochemical features.
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Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases
American Journal of Medical Genetics, Part A, 1986 We examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by
Patrick Aubourg, Frank Roels, H Ogier
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1989
Refsum’s disease (RD), also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. The age at onset is known to vary from early childhood to the fifth decade. The onset is insidious and may be difficult to determine precisely. Symptoms sometimes
Jacob Valk, Marjo S. van der Knaap
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Refsum’s disease (RD), also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. The age at onset is known to vary from early childhood to the fifth decade. The onset is insidious and may be difficult to determine precisely. Symptoms sometimes
Jacob Valk, Marjo S. van der Knaap
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La Revue de medecine interne, 1996
Refsum's disease, firstly described almost 50 years ago by the Norvegian neurologist Sigvald Refsum, is an autosomic recessive disease affecting mostly the Scandinavians and the populations originating from Northern Europe. The disease results from a specific enzyme deficiency of the first step of phytanic acid catabolism pathway. This deficiency leads
I, Hochner, J F, Blickle, J M, Brogard
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Refsum's disease, firstly described almost 50 years ago by the Norvegian neurologist Sigvald Refsum, is an autosomic recessive disease affecting mostly the Scandinavians and the populations originating from Northern Europe. The disease results from a specific enzyme deficiency of the first step of phytanic acid catabolism pathway. This deficiency leads
I, Hochner, J F, Blickle, J M, Brogard
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Orvosi hetilap, 2000
For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system.
G, Bernscherer +6 more
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For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system.
G, Bernscherer +6 more
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Skeletal changes in Refsum's disease
Clinical Radiology, 1979Refsum's disease is a rare inherited disease of lipid metabolism. The cardinal diagnostic features include polyneuritis, cerebellar ataxia, an atypical pigmentosa and a high CSF protein. The disorders is accompanied by the accumulation in the tissues, especially the liver and kidneys, of the lipid 'phytanic acid'.
W J, Wall, B S, Worthington
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