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.
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- 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.
- Mucopolysaccharidosis type IVB
Morquio syndrome due to deficiency of the enzyme beta-galactosidase. See also Mucopolysaccharidosis.
- Mucopolysaccharidosis type VII
Sly syndrome, due to deficiency of the enzyme beta-glucuronidase. See also Mucopolysaccharidosis.
- Mucopolysaccharidosis type VIII
DiFerrante syndrome, due to deficiency of the enzyme glucosamine-6-sulfate. See also Mucopolysaccharidosis.