| mucolipidosis |
Term coined to denote diseases that combined clinical features common to both the mucopolysaccharidoses and the sphingolipidoses (diseases characterized by abnormal lipid or fat metabolism, affecting nerve tissue). See ML II and ML III
출처: www.mpssociety.org/lib-glossary.html
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| mucolipidosis type I |
ABBR: 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 deformitie
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| mucolipidosis type II |
ABBR: 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. SYN
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| mucolipidosis type III |
ABBR: ML III. A rare autosomal recessive disease characterized by bone and joint anomalies, esp. of hip and spine development; eye diseases; and sometimes mild mental retardation. It typically becomes clinically recogniza
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