mucolipidosis IV

mucolipidosis

 [mu″ko-lip″ĭ-do´sis] (pl. mucolipido´ses)
any of a group of genetic disorders in which both glycosaminoglycans (GAGs) and lipids accumulate in tissues, but without excess of GAG in the urine.
mucolipidosis I sialidosis (type I).
mucolipidosis II a rapidly progressing disease of young children, histologically characterized by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I-cells), and clinically by severe growth impairment, minimal hepatic enlargement, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is due to deficiency of multiple lysosomal hydrolases. Called also I-cell disease.
mucolipidosis III a disorder similar to but milder than mucolipidosis II, and thought to be due to the same enzyme deficiency but to a lesser extent. Called also pseudo-Hurler polydystrophy.
mucolipidosis IV a form marked by early corneal clouding, psychomotor retardation, and the presence of lysosomal storage bodies; thought to be transmitted as an autosomal recessive trait.
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 IV

[MIM*252650]
psychomotor retardation with cloudy corneas and retinal degeneration, with inclusion cells in cultured fibroblasts; the pathogenesis is uncertain; autosomal recessive inheritance.
Farlex Partner Medical Dictionary © Farlex 2012

mucolipidosis IV

n.
A type of mucolipidosis characterized by psychomotor delay, unsteady gait, corneal clouding, and retinal degeneration.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

mu·co·lip·i·do·sis IV

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz)
Psychomotor retardation with cloudy corneas and retinal degeneration, with inclusion cells in cultured fibroblasts; the pathogenesis is uncertain; autosomal recessive inheritance.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

mu·co·lip·i·do·sis IV

(myū'kō-lip-i-dō'sis) [MIM*252650]
Psychomotor retardation with cloudy corneas and retinal degeneration, with inclusion cells in cultured fibroblasts; pathogenesis uncertain.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
In addition to CF, CD, and TSD, our laboratory currently offers DNA-based testing for Gaucher disease, Bloom syndrome, familial dysautonomia, Fanconi anemia complement group C, Niemann-Pick disease, Mucolipidosis IV, and atypical congenital adrenal hyperplasia.