| 释义 |
pseudo-Hurler polydystrophy
polydystrophy [pol″e-dis´trah-fe] degeneration, dysfunction, or atrophy of several tissues or organs, as in some congenital syndromes.pseudo-Hurler polydystrophy mucolipidosis III.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, pseudopolydystrophypseudo-Hurler polydystrophy (1) Mucolipidosis III alpha/beta, see there.
(2) Mucolipidosis III gamma, see there. |