| 释义 |
mucolipidosis type I mucolipidosis type I Abbreviation: ML I
A rare autosomal recessive disorder in which abnormal metabolism of glycoproteins and starches results in their accumulation in cells and tissues. Mental retardation, eye diseases, and musculoskeletal deformities are common clinical findings. ML I is also known as sialidosis. See also: mucolipidosis |