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.

pol·y·dys·tro·phy

(pol'ē-dis'trŏ-fē),
A condition characterized by the presence of many congenital anomalies.
[poly- + dystrophy]

polydystrophy

(pol?e-dis'tro-fe) [? + ? + trophe, nourishment]
The condition of having multiple congenital anomalies of the connective tissues.

pseudo-Hurler polydystrophy

Mucolipidosis type III.
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.
In addition, cells of patients with mucolipidosis IIIA (pseudo-Hurler polydystrophy) showed decreased activity of GlcNAc-1-phosphotransferase at 37[degrees]C and mucolipidosis IIIC cells exhibit defective recognition of lysosomal enzymes caused by mutation of [gamma]-subunit.
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.
It resembles Hurler syndrome (and is also called pseudo-Hurler polydystrophy), though it is not characterized by organomegaly or mucopolysacchariduria.
I-Cell disease and pseudo Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization.
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.
690 Los Angeles, CA 90095 (310) 825-6865 (310) 794-9962 (fax) http://www.pedsuro.com 3,4 PSEUDO-HURLER POLYDYSTROPHY See: Mucopolysaccharidosis; Tay-Sachs Disease PSEUDOCHOLINESTERASE DEFICIENCY See: Malignant Hyperthermia PSEUDOXANTHOMA ELASTICUM (PXE) See also: Connective Tissue Disorders; Heart Disorders; Macular Diseases; Visual Impairments National Association for Pseudoxanthoma Elasticum 3500 E.
690 Los Angeles, CA 90095 (310) 825-6865 (310) 794-9962 (fax) http://www.pedsuro.com 3 PSEUDO-HURLER POLYDYSTROPHY See: Mucopolysaccharidosis; Tay-Sachs Disease PSEUDOCHOLINESTERASE DEFICIENCY See: Malignant Hyperthermia PSEUDOXANTHOMA ELASTICUM (PXE) See also: Connective Tissue Disorders; Heart Disorders; Macular Diseases; Visual Impairments National Association for Pseudoxanthoma Elasticum 3500 E.
690 Los Angeles, CA 90095 (310) 825-6865 (310) 794-9962 (fax) http://www.pedsuro.com 3,4,5,9 PSEUDO-HURLER POLYDYSTROPHY See: Mucopolysaccharidosis; Tay-Sachs Disease PSEUDOCHOLINESTERASE DEFICIENCY See: Malignant Hyperthermia PSEUDOXANTHOMA ELASTICUM (PXE) See also: Connective Tissue Disorders; Heart Disorders; Macular Diseases; Visual Impairments National Association for Pseudoxanthoma Elasticum 3500 E.
690 Los Angeles, CA 90095 (310) 825-6865 (310) 794-9962 (fax) 3,4,9 PSEUDO-HURLER POLYDYSTROPHY See: Mucopolysaccharidosis; Tay-Sachs Disease PSEUDOCHOLINESTERASE DEFICIENCY See: Malignant Hyperthermia PSEUDOXANTHOMA ELASTICUM (PXE) See also: Connective Tissue Disorders; Heart Disorders; Macular Diseases; Visual Impairments National Association for Pseudoxanthoma Elasticum 3500 E.