Refsum's disease

Phytanic acid oxidase deficiency An AR degenerative disorder caused by a defect in phytanic acid metabolism, resulting in fatty acid accumulation Clinical Chronic polyneuropathy, retinitis pigmentosa, cerebellar ataxia, EKG changes, nerve deafness, ichthyosis. See Phytanic acid.

Refsum's disease

A rare autosomal recessive degenerative disorder due to a gene mutation on chromosome 10 that causes a deficiency of the enzyme phytanoyl-CoA hydroxylase. The disease features widespread demyelination of nerves, RETINITIS PIGMENTOSA with hight blindness, ICHTHYOSIS of the skin, loss of the sense of smell, deafness, and poor balance from cerebellar dysfunction. Infantile Refsum disease is caused by a mutation of the gene on chromosome 7 for phytanic acid alpha-hydroxylase. It features impaired peroxisomal function with accumulation of phytanic acid and other substances.

单词	refsum's disease
释义	DictionarySeedisease Refsum's disease Refsum's disease [′ref·səmz di‚zēz] (medicine) A familial disorder characterized by visual disturbances, ataxia, neuritic changes, and cardiac damage, associated with high blood level of phytinic acid. Refsum's disease Refsum's disease Phytanic acid oxidase deficiency An AR degenerative disorder caused by a defect in phytanic acid metabolism, resulting in fatty acid accumulation Clinical Chronic polyneuropathy, retinitis pigmentosa, cerebellar ataxia, EKG changes, nerve deafness, ichthyosis. See Phytanic acid. Refsum's disease A rare autosomal recessive degenerative disorder due to a gene mutation on chromosome 10 that causes a deficiency of the enzyme phytanoyl-CoA hydroxylase. The disease features widespread demyelination of nerves, RETINITIS PIGMENTOSA with hight blindness, ICHTHYOSIS of the skin, loss of the sense of smell, deafness, and poor balance from cerebellar dysfunction. Infantile Refsum disease is caused by a mutation of the gene on chromosome 7 for phytanic acid alpha-hydroxylase. It features impaired peroxisomal function with accumulation of phytanic acid and other substances.
随便看	micro-lenders microlenders micro lenders credit bureau micro lending micro-lending microlending micro lens array microlens array microlensing microlensing exploration of the galaxy and andromeda microlensing exploration of the galaxy & andromeda microlensing observations in astrophysics microlepidoptera microlesion microlestes microlet vaculance microleukoblast microlevel micro level planning microlight microlight aircraft microlighting microlights micro light valve array microline