Refsum disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes ... Read more
Refsum disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes ... Read more
Refsum disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes ... Read more
Refsum disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes ... Read more
Refsum disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes ... Read more
Refsum disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes ... Read more