ARTS SYNDROME

Summarized by Plex Health
Last Updated: 02 May 2022
x-linked charcot-marie-tooth disease, arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel prps1 mutation. "x-linked charcot-marie-tooth disease, arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel prps1 mutation.", by Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L. F2: Brain magnetic resonance imaging (MRI) of the two affected siblings. MRI shows diffuse parietal atrophy (arrows in A, C) and mild cerebellar atrophy (arrows in B, D) in the index patient II-2 at age...

Arts syndrome is defined by sensorineural hearing loss and severe neurological and immune system troubles in males. Arts syndrome is triggered by mutations in the PRPS1 genetics which is located on the X chromosome. Boys with Arts syndrome have sensorineural hearing loss, which is a almost full or total loss of hearing caused by abnormalities in the inner ear. In very early youth, affected boys develop vision loss triggered by deterioration of the nerves that lug information from the eyes to the brain. Boys with Arts syndrome have problems with their immune system that lead to recurrent infections, especially entailing the respiratory system. Ladies can be affected by Arts syndrome, however they commonly have much milder symptoms. Arts syndrome is brought on by mutations in the PRPS1 gene. The PRPS1 mutations that cause Arts syndrome change one protein building block with another amino acid in the PRPP synthetase 1 enzyme. The disturbance of purine and pyrimidine production might harm energy storage and transport in cells.

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