Mucolipidosis type II | definition of mucolipidosis type II by Medical dictionary
mucolipidosis type II
mucolipidosis type II Abbreviation: ML II
A rare autosomal recessive disease that results in death in infancy or early childhood. Characteristic findings include severe mental retardation, poor muscle tone, kyphosis, and coarsened facial features. Synonym: I cell disease
References in periodicals archive
1,4,11,12) Mucolipidosis type II
[alpha]/[beta] and ML III [alpha]/[beta], the principal focus of the current report, are the result of mutations in the gene coding for the [alpha]/[beta] subunit where the catalytic domain resides.