MTX


Abbreviation for methotrexate.

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    A syndrome of unknown origin that mainly affects young children. It causes fever, reddening of the eyes (conjunctivitis) and lips and mucous membranes of the mouth, ulcerative gum disease (gingivitis), swollen glands in the neck (cervical lymphadenopathy), and a rash that is raised and bright red (maculoerythematous) in a glove-and-sock fashion over the hands and […]

  • Mucolipidosis

    One of a group of storage diseases in which both lipids and substances called mucopolysaccharides accumulate in the tissues of the body. Four different mucolipidoses have been identified, numbered I through IV. All four are lysosomal disorders’that is, the lysomes are organelles within the cell that contain enzymes that can digest (lyse) substances’and all are […]

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    A type of mucolipidosis that is characterized by deficiency of the enzyme neuraminidase (sialidase). There are two forms of the disease. One form is characterized by cherry red spots in the eyes, gradual loss of vision, progressive debilitating myoclonus (muscle spasms), and normal intelligence. The other form of the disease, in addition to featuring the […]

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    A type of mucolipidosis that is characterized by deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase and features of Hurler syndrome, but with much slower progression. Also known as pseudo-Hurler polydystrophy.

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    A type of mucolipidosis that is due to mutation in the gene that encoded mucolipin-1. Most patients with mucolipidosis IV have developmental delay, mental retardation, clouding of the cornea of the eye, and severe visual impairment.


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