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What is Deficiency of the enzyme phytate oxidase results in? and explain in detail?
Ans. c (Refsum's disease). (Ref. Harper, Biochemistry, 25th ed., 248)INBORN ERRORFEATURERefsum's diseaseIt is a rare inherited disorder caused by accumulation of phytanic acidIts due to the deficiency of phytate oxidase and defect in alpha oxidation.It basically leads to peripheral neuropathy due to accumulation of phytanic acid in nerves,and retinitis pigmentosa is other associated feature.Zellweger's diseasecerebrohepatorenal syndrome that occurs due to inherited absence of peroxisomes.Lowe's syndromeis occulocerebrorenal syndrome. (Heart is not involved)Tay-sach's diseaseis a sphingolipidosis (Hexosaminidase A is absent)