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Mucolipidosis iii

mucolipidosis III

(Science: biochemistry) 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.


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