Mucolipidoses
The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells
?What are the different types of mucolipidoses?
mucolipidosis I
mucolipidosis II
mucolipidosis III
mucolipidosis IV
?How are the mucolipidoses diagnosed?
Blood test that measures enzyme activity in the patient's white blood cells. Activity levels that are lower than normal indicate specific enzyme deficiencies.
skin biopsy. A small sample of skin is taken from the patient and grown in a cell culture. The activity of a particular enzyme in the cultured skin cells is then measured.
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