Mucolipidosis I — A sialidosis

Abstract

Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.

Quantitative dysmorphology assessment in Fabry disease

“…In isolation, some of these features are subtle which may account for the lower inter-rater variability. Coarse facial features are relatively common in other lysosomal storage disorders such as mucopolysaccharidosis, 28 GM 1 -gangiosidosis, 29 Sandhoff disease, 30,31 pycnodysostosis, 32 aspartylglucosaminuria, 33 mucolipidosis II, 34 alpha-mannosidosis, 35 beta-mannosidosis, 36,37 fucosidosis, 38 sialidosis, 39 and galactosialidosis, 40 however, this was only observed in 29% of this cohort of patients with Fabry disease. The facial features, such as recessed forehead, prominent nasal angle, and prominent supraorbital ridges described in these studies are distinctive from coarse facies seen in other storage disorders.…”

Proteomic Analysis of Lysosomal Acid Hydrolases Secreted by Osteoclasts

“…Similarly the Goldberg syndrome due to a lack of cathepsin A results in dwarfism (30). Sialidosis due to a lack of sialidase 1 is characterized in part by osteopenia (31). Some other enzyme deficiencies, not reported in humans, have been produced in animal models.…”

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

“…A deficiency of this neuraminidase and an excessive intracellular accumulation and urinary excretion of sialic-acid-containing compounds was first discovered in a patient with a mucopolysaccharidosis-like disorder that had been classified as mucolipidosis I Spranger et al 1977;. Immediately thereafter, other patients with variable phenotypes were likewise recognized as suffering from sialidosis (Kelly and Graetz 1977;Durand et al 1977;O'Brien 1977), leading to the definition of a disorder with a broad clinical spectrum (OMIM 256550;McKusick 2000; recently reviewed by Thomas 2001).…”