To hear audio pronunciation of this topic, purchase a subscription or log in.

ABBR: ML One of several rare, inherited lysosomal storage diseases in which abnormalities in the transport of lysosomal enzymes into lysosomes result in their accumulation in extracellular fluids or plasma. Findings include muscle and skeletal anomalies, coarsened facial features, eye abnormalities (including a visible “cherry-red spot” on the retina), and mental retardation.

There's more to see -- the rest of this topic is available only to subscribers.