Arts syndrome

Arts syndrome
Other namesataxia-deafness-optic atrophy, lethal; ataxia - fatal x-linked with deafness and loss of vision
This condition is inherited in an X-linked recessive manner.

Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts Syndrome is part of a spectrum of PRPS-1 related disorders with reduced activity of the enzyme that includes Charcot–Marie–Tooth disease and X-linked non-syndromic sensorineural deafness.

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