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.

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.

mucolipidosis IV

n.
A type of mucolipidosis characterized by psychomotor delay, unsteady gait, corneal clouding, and retinal degeneration.

mucolipidosis IV

an autosomal-recessive disorder characterized by psychomotor retardation and severe visual impairment, initially manifest in infancy or childhood as corneal clouding. Sialic acid-containing gangliosides are accumulated as a result of deficient ganglioside sialidase activity. However, the deficiency is not believed to be the primary defect.

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.

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.
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.
Mucolipidosis IV requires two mutations to be analyzed.
is a national campaign promoting genetic testing for the following diseases: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type c, Gaucher Disease, Glycogen, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.