Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid [PDF]
Case Reports in Ophthalmological Medicine, 2021 Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay,
Omar Elghawy +4 more
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Improved electroretinographic responses following dietary intervention in a patient with Refsum disease [PDF]
JIMD Reports, 2020 Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl‐CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids.
Matthew D. Benson +3 more
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PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review [PDF]
Children, 2023 The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental
Ana-Maria Slanina +9 more
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Dilated cardiomyopathy revealing Refsum disease: a case report [PDF]
Journal of Medical Case ReportsBackground Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including ataxia, peripheral neuropathy ...
Salim Arous +5 more
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A unique case of microspherophakia in adult Refsum disease [PDF]
American Journal of Ophthalmology Case ReportsAdult Refsum disease (RD) is a rare autosomal recessive peroxisomal disorder with an estimated prevalence of fewer than 1 in 1 million. The ocular manifestations result from the accumulation of phytanic acid, leading to retinitis pigmentosa, attenuated ...
Catherine Liu +3 more
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Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report [PDF]
Journal of Medical Case Reports, 2008 Introduction Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.
Jayaram Hari, Downes Susan M
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QJM, 2001 Refsum's disease (hereditary motor and sensory neuropathy type IV) is a rare autosomal recessive condition first characterized by Sigvald Refsum in 1945. He initially chose the name heredoataxia hemeralopica polyneuritiformis,1 subsequently amending this to heredopathia atactica polyneuritiformis.2 Thankfully, the eponymous version now predominates in ...
A J, Wills, N J, Manning, M M, Reilly
openaire +4 more sources
Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions [PDF]
JIMD ReportsAdult Refsum disease (ARD, OMIM #266510) is an autosomal recessive condition, resulting in phytanic acid (PA) accumulation in plasma and tissue. The management of ARD relies on a low PA diet, but the importance of adequate energy and carbohydrate ...
Sarah J. Firman +7 more
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Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother. [PDF]
JIMD Rep, 2019 Dubot P +7 more
europepmc +2 more sources