Skip to Content
Medical Term:

mucolipidosis I

 

Definition: mucolipidosis somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency; autosomal recessive inheritance caused by mutation in the neuraminidase gene (NEU) on 6p.

Synonym(s): lipomucopolysaccharidosis

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide