pseudopolydystrophy

mu·co·lip·i·do·sis III

[MIM*252600, MIM*252605] mucolipidosis with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease is often present; associated with a deficiency of N-acetyl-α-glucosaminidase or other enzyme deficiencies such as lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase in mutant fibroblasts; lacks the ability to recognize lysosomal enzymes and specific substrates for phosphorylation; autosomal recessive inheritance. Synonym(s): pseudo-Hurler polydystrophy, pseudopolydystrophy

pseudopolydystrophy

(1) Mucolipidosis III alpha/beta, see there.
(2) Mucolipidosis III gamma, see there.

单词	pseudopolydystrophy
释义	pseudopolydystrophy mu·co·lip·i·do·sis III [MIM252600, MIM252605] mucolipidosis with mild Hurlerlike symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip; aortic and mitral valve disease is often present; associated with a deficiency of N-acetyl-α-glucosaminidase or other enzyme deficiencies such as lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase in mutant fibroblasts; lacks the ability to recognize lysosomal enzymes and specific substrates for phosphorylation; autosomal recessive inheritance. Synonym(s): pseudo-Hurler polydystrophy, pseudopolydystrophy pseudopolydystrophy (1) Mucolipidosis III alpha/beta, see there. (2) Mucolipidosis III gamma, see there.
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