Recurrent coma and Lesch-Nyhan syndrome

Bryan J. Lynch, Michael J. Noetzel

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish
Pages (from-to)389-391
Number of pages3
JournalPediatric Neurology
Volume7
Issue number5
DOIs
StatePublished - Jan 1 1991

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