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Mucolipidosis type I
Mucolipidosis type I, formerly known as lipomycopolysaccharidosis, is extremely rare and resembles mucopolysaccharidosis type I, but the skeletal and clinical symptoms are milder, the excretion of mucopolysaccharides in the urine is not increased, and the lesions progress slowly. Cultured fibroblasts contain birefringent inclusion bodies that have the histochemical characteristics of glycolipids and acidic mucopolysaccharides.
  • Site of disease:

    whole body
  • Infectious :

    Not contagious
  • Frequent population:

    child
  • Related symptoms:

    Hearing impairment Flat nose Brachycephaly Ataxia Widely spaced eyes
  • Concurrent disease:

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