Write short notes on Refsum’s disease and ketosis.

Question

21 Jul 2024

Answer :

Word Count : 323

### Refsum’s Disease

Refsums’s disease is a rare inherited disorder of lipid metabolism, specifically a peroxisomal disorder. It is caused by a deficiency in the enzyme phytanoyl-CoA hydroxylase, which is responsible for the breakdown of phytanic acid, a branched-chain fatty acid. When this enzyme is deficient or absent, phytanic acid accumulates in the body, leading to a range of symptoms.

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