Medical Definition of Mucolipidosis iii
1.
Mucolipidosis with mild Hurler-like symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip. Aortic and mitral valve disease are often present.
It is associated with a deficiency of UDP-N-acetyl glucosamine and lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase.
Inheritance: autosomal recessive.
Synonym: pseudo-Hurler polydystrophy, pseudopolydystrophy.
(05 Mar 2000)
Lexicographical Neighbors of Mucolipidosis Iii
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