I-cell disease


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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 II

[MIM*252500]
a metabolic disorder with onset in early childhood characterized by clinical and radiographic findings similar to those in Hurler syndrome including gum hypertrophy, thoracic dysplasia, congenital hip dislocation, and mental retardation; vacuolated lymphocytes and unusual inclusion bodies in cultured fibroblasts (I-cells) are found; lysosomal enzymes are increased in serum, spinal fluid, and urine; urinary mucopolysaccharides are normal; associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase; autosomal recessive inheritance.

I-cell disease

(ī′sĕl)

I-cell disease

Type II mucolipidosis An AR condition caused by a defect in protein trafficking and sorting, resulting in massive accumulation of intracellular and extracellular waste products, especially glycolipids Clinical Hurler-like/type I-H mucopolysaccharidosis disease with a gargoyle face, early onset of psychomotor retardation, joint contracture, hepatosplenomegaly and cardiac decompensation, with death in childhood Lab Normal urinary mucopolysaccharides, vacuolated lymphocytes, ↑ lysosomal enzymes in serum, CSF, urine

mu·co·lip·i·do·sis II

(myū'kō-lip-i-dō'sis) [MIM*252500]
Metabolic disorder with onset in early childhood characterized by clinical and radiographic findings similar to those in Hurler syndrome including gum hypertrophy and thoracic dysplasia.
Synonym(s): I-cell disease.
References in periodicals archive ?
I-Cell disease and pseudo Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization.
The fibroblast cell lines were from two different children, both with phenotypes typical of I-cell disease (8).
In fibroblasts from the patients with I-cell disease, the GA activity was 8-11%,the (3-galactosidase activity was 0.1-4%, and the arylsulfatase activity was 5-12% of the mean activity of the corresponding enzymes in control fibroblasts (Table 1A).
The highly increased GA activity in serum and urine from patients with I-cell disease shows that active GA is truly formed in this disease.
Ultrastructure of cultured fibroblasts in I-cell disease. Am J Dis Child.
Contemporary Nomenclature for ML II and ML III (a) Disorder Affected Gene Chromosome ML II [alpha]/[beta] GNPTAB 12q23.3 ML III [alpha]/[beta] GNPTAB 12q23.3 ML III [gamma] GNPTG 16p13.3 Disorder Previous Nomenclature ML II [alpha]/[beta] ML II, I-cell disease ML III [alpha]/[beta] ML IIIA, Pseudo-Hurler polydystrophy ML III [gamma] ML IIIC, ML III variant Abbreviations: ML II, mucolipidosis type II; ML III, mucolipidosis type III.