National Organization for Rare Disorders, Inc. It is possible
that the main title of the report Sialidosis is not the name you
expected. Please check the synonyms listing to find the
alternate name(s) and disorder subdivision(s) covered by this
report. - ML I - alpha-neuraminidase deficiency - cherry red
spot and myoclonus syndrome - glycoprotein neuraminidase,
deficiency of - lipomucopolysaccharidosis type I - mucolopidosis
type I - neuraminidase deficiency - sialidase deficiency
Sialidosis, also known as mucolipidosis type I, is a rare
inherited metabolic disorder characterized by a deficiency of
the enzyme neuraminidase (sometimes referred to as sialidase).
Deficiency of neuraminidase results in the abnormal accumulation
of toxic materials in the body. Sialidosis is divided into two
types (i.e., type I and type II). Sialidosis type I usually
becomes apparent during the second decade of life with the
development of sudden involuntary muscle contractions
(myoclonus), distinctive red spots (cherry-red macules