MEDizzy
MEDizzy

What’s Refsum Disease?

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Top rated comment
over 5 years ago

Phytanic acid oxidase deficiency (alpha hydroxylase deficiency) in infants. Leads to defect in alpha oxidation of fatty acids. Since Phytanic acid has methyl group in beta position, it can undergo only alpha oxidation. Defect in alpha oxidation thus leads to accumulation of Phytanic acid in body. Milk should be avoided since it has Phytanic acid.

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over 5 years ago

Phytanoyl CoA deficiency.

about 3 years ago

Phytins and tanins toxicity

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