Mucolipidosis I, juvenile form (medical condition)

A rare inherited disorder involving an enzyme (neuraminidase and beta-galactosidase) deficiency which results in a build up of glycoproteins (sialyloligosaccharides) in the urine. The juvenile form of the condition is less severe than the infantile form which causes death within months of birth. See also Neuraminidase deficiency, type II, juvenile form

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