title: Recurrent coma and Lesch-Nyhan syndrome.
abstract: A patient with Lesch-Nyhan syndrome has had 3 recurrent episodes of coma, each associated with an acute illness. Extensive investigation for known causes of coma has failed to yield a diagnosis. Although coma is not generally recognized as a feature of Lesch-Nyhan syndrome, similar patients have been reported previously. This and other episodic phenomena observed in Lesch-Nyhan syndrome may be explained by the disruption of cellular energy metabolism due to purine depletion, consequent to lack of the purine salvage pathway normally provided by the hypoxanthine-guanine-phosphoribosyl-transferase enzyme.
authors.affiliation: Department of Pediatrics, Washington University, St. Louis, Missouri.
authors.forename: B J
authors.initials: BJ
authors.lastname: Lynch
authors.forename: M J
authors.initials: MJ
authors.lastname: Noetzel
mesh_terms: D003128:Coma / Q000209:etiology* / Q000523:psychology; D006801:Humans; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000150:complications*; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications; D011014:Pneumonia / Q000150:complications; D012008:Recurrence