ARTS syndrome

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ARTS syndrome2016-11-24T20:44:56+00:00

ARTS syndrome 


Definition A hereditary disorder (OMIM:301835) characterised by ataxia, mental retardation, early-onset hypotonia, delayed motor development, hearing impairment, optic atrophy, and susceptibility to infections, especially upper respiratory, which can cause early death.

Molecular pathology Defects of PRPS1, which encodes an enzyme that catalyses a critical step in purine metabolism and nucleotide biosynthesis, cause ARTS syndrome. 

Synonyms Ataxia—fatal X-linked—with deafness and loss of vision, mental retardation—X-linked—syndromic type 18, mental retardation—X-linked—syndromic—ARTS type


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