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mucolipidosis IV
(redirected from Mucolipidosis type IV)

   Also found in: Wikipedia 0.02 sec.
mucolipidosis IV
n.
Mucolipidosis marked by psychomotor retardation, cloudy corneas, and retinal degeneration, with the presence of inclusion bodies in cultured fibroblasts.

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.

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.


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At 5:03 PM, August 16, 1990, my husband, David, phoned to tell me ' that our son, Scott, had a rare metaboric disease called Mucolipidosis Type IV or ML4.
Mucolipidosis type IV is a disease caused by an enzyme deficiency in the body.
 
 
 
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