pseudo-Hurler polydystrophy

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degeneration, dysfunction, or atrophy of several tissues or organs, as in some congenital syndromes.
pseudo-Hurler polydystrophy mucolipidosis III.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

pseudo-Hurler polydystrophy

(1) Mucolipidosis III alpha/beta, see there.  
(2) Mucolipidosis III gamma, see there.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
(4,5) In this article, we present four pediatric patients with joint stiffness and diagnosed as ML III or pseudo-Hurler polydystrophy with characteristic radiographic findings to attract attention to this rare entity in pediatric rheumatology.
Mucolipidosis type III [alpha]/[beta] (ML III, also known as pseudo-Hurler polydystrophy) is a rare autosomal recessive disorder of lysosomal hydrolase trafficking that displays prominent skeletal involvement.
Mucopolysaccharidosis VI and pseudo-Hurler polydystrophy (ML III) were considered in the differential diagnosis.
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase [alpha]/[beta]-subunits precursor gene.
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).
I-Cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants.