A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this...

Conjunctiva! biopsies from two sibs with mucolipidosis III and from their clinically normal parents were examined by histochemistry and electron microscopy. Connective tissue cells were filled with single membrane-limited vacuoles which frequently contained membranous lamellar material. These findings indicate abnormal mucopolysaccharide and glycolipid accumulation in this disorder and suggest ...

Mucolipidosis type IV (MLIV) is a rare neurodegenerative disorder characterized by severe psychomotor delay and visual impairment. We report the brain pathology in the first Japanese patient of MLIV with a novel homozygous missense mutation in MCOLN1. We detected the localized increase in p62-reactive astrocytes in the basal ganglia.

OBJECTIVE To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. DESIGN Review of medical records. SETTING Specialized Genetic Center. PARTICIPANTS 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). METHODS Plasma chitotriosid...

A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are re...

PURPOSE. Mucolipidosis II and III (ML II; ML III) are lysosomal storage diseases characterized by a deficiency in GlcNAc-1phosphotransferase. Patients with ML III have retinal disease, but in cases of the more clinically severe ML II, human ophthalmic studies are limited. In this study, retinal function and overall disease were assessed in mice lacking GNPTAB, the gene mutated in patients with ...

Conjunctiva! biopsies from two sibs with mucolipidosis III and from their clinically normal parents were examined by histochemistry and electron microscopy. Connective tissue cells were filled with single membrane-limited vacuoles which frequently contained membranous lamellar material. These findings indicate abnormal mucopolysaccharide and glycolipid accumulation in this disorder and suggest ...

UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an α2β2γ2 hexameric enzyme that catalyzes the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis II (ML II) or the more moderate mucolipidosis III alpha/beta (ML III α/β), while mutations in the ...