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 inherited in an autosomal recessive manner.
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- Mucolipidosis I
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 […]
- Mucolipidosis III
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.
- Mucolipidosis IV
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.
- Mucopolysaccharidosis
alpha-glucosaminide acetyltransferase MPS type IIID — Sanfilippo syndrome — due to deficiency of the enzyme N-acetylglucosamine 6-sulfatase MPS type IVA — Morquio syndrome — due to deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase MPS type IVB — Morquio syndrome — due to deficiency of the enzyme beta-galactosidase MPS type VI — Maroteaux-Lamy syndrome — due to […]
- Mucopolysaccharidosis type IIIB
Sanfilippo syndrome due to deficiency of the enzyme alpha-N-acetylglucosaminidase. See also Mucopolysaccharidosis.