pseudo-Hurler polydystrophy


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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.

pseudo-Hurler polydystrophy

a disorder similar to but milder than I cell disease and thought to result from the same enzyme deficiency but to a lesser extent.

pseudo-Hurler polydystrophy

(1) Mucolipidosis III alpha/beta, see there.  
(2) Mucolipidosis III gamma, see there.
References in periodicals archive ?
Mucopolysaccharidosis VI and pseudo-Hurler polydystrophy (ML III) were considered in the differential diagnosis.
3 Disorder Previous Nomenclature ML II [alpha]/[beta] ML II, I-cell disease ML III [alpha]/[beta] ML IIIA, Pseudo-Hurler polydystrophy ML III [gamma] ML IIIC, ML III variant Abbreviations: ML II, mucolipidosis type II; ML III, mucolipidosis type III.
I-Cell disease (mucolipidosis II, McKusick 252500) and a clinically milder, form pseudo-Hurler polydystrophy (mucolipidosis III, McKusick 252600), are autosomal, recessively inherited lysosomal storage diseases in which the transport of newly synthesized lysosomal enzymes into lysosomes is affected (6).