sialidosis


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sialidosis

 [si-al″ĭ-do´sis]
an autosomal recessive disorder due to a deficiency of sialidase; there are two different types: Type I is of adolescent or adult onset and is characterized by myoclonus, ocular cherry red spot with progressive loss of visual acuity, and storage of sialyloligosaccharides. Type II is additionally characterized by somatic abnormalities, coarse facial features, and dysostosis multiplex and occurs as several variants of increasing severity with earlier age of onset; the one in neonates is accompanied by ascites, facial edema, inguinal edema, and early death; the one in infants is accompanied by visceromegaly and mental retardation; and a juvenile form is better characterized as galactosialidosis.

cher·ry-red spot my·oc·lo·nus syn·drome

a neuronal storage disorder in children characterized by a cherry-red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type I is characterized by normal body habitus, cherry-red macula, myoclonus, and normal β-galactosidase levels; type II by short stature, bony abnormalities, and deficient β-galactosidase.
Synonym(s): sialidosis

sialidosis

(sī-ăl′ĭ-dō′sĭs)
n.
Either of two types of mucolipidosis caused by a deficiency of the enzyme neuraminidase (formerly called sialidase) and characterized by myoclonic seizures, cherry-red maculas in the retina with visual impairment, enlarged liver and spleen, and intellectual disability in the more severe type.

sialidosis

[sī′əlidō′sis]
a neuronal storage disease of children caused by a deficiency of the enzyme sialidase (neuraminidase). The condition is characterized by a cherry-red spot on the macula, progressive myoclonus, and seizures. There are two types. Type 1 patients have normal physical features and beta-galactosidase levels. Type 2 patients also have short stature, bony abnormalities, and beta-galactosidase deficiency.

sialidosis

A condition caused by an isolated defect of alpha-N-acetyl neuraminidase (sialidase) in leukocytes and fibroblasts and an increase of sialyloligosaccharide in the urine. Sialidosis is divided into two types:
• Type 1, or cherry-red spot myoclonus syndrome, which is characterised by myoclonic epilepsy, visual problems and ataxia in the 2nd or 3rd decade of life; macular cherry-red spots are 100% present. The myoclonus is aggravated by smoking and menses, among other factors, and may become debilitating.
• Type 2 patients have an earlier onset of symptoms and exhibit dysmorphic and somatic features that progressively worsen. Type 2 is subdivided into:
   – Infantile-onset form—Presents in the first year of life with coarse, Hurler-like facies; hepatomegaly; bony changes of dysostosis multiplex; developmental delay; and cherry-red spots (occur in < 75%); and
   – Congenital form—Onset in utero, with hydrops fetalis and hepatomegaly; infants are either stillborn or die within months.
References in periodicals archive ?
1]H-NMR data, in terms of chemical shifts and coupling constants could be collected and verified thanks to the availability of so many partial structures of glycoprotein-glycans isolated from the urine of patients with inborn errors of glycan-metabolism like oligomannosidosis, sialidosis, fucosidosis,
1]H nuclear magnetic resonance spectroscopy of sialyloligosaccharides for patients with sialidosis (mucolipidosis I and II).
2) El diagnostico diferencial incluye: enfermedad de Lafora, UnverrichtLundborg, epilepsia mioclonica de fibras rojas rasgadas, sialidosis tipo 1, galactosidosis tipo 2, enfermedad de Gaucher tipo III y atrofia dentatorrubral palidoliusona (DRPLA).
The enzyme is missing or reduced in a rare inherited disorder called sialidosis that can affect children and adolescents.
Thymoquinone from nutraceutical black cumin oil activates Neu4 sialidase in live macrophage, dendritic, and normal and type I sialidosis human fibroblast cells via GPCR Galphai proteins and matrix metalloproteinase-9.
Sialidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of sialyloligosaccharides in the blood, tissues and urine occuring as a result of mutaton of the gene coding lysosomal sialydase (neuraminidase) enzyme localized on the short arm of th 6th chromosome (1,2).
Sialidosis type I: first report in the Indian population.
Lafora disease, Unverricht-Lundborg disease , mitochondrial diseases, sialidosis, and neuronal ceroid lipofuscinosis).
Estos corpusculos sirvieron despues para distinguir esta condicion de los otros tipos principales de epilepsia mioclonica, en los cuales no se encuentra, a saber: Enfermedad de Unverricht-Lundborg (Unberricht 1891, Lundborg 1903), sialidosis tipo I (Federico et al.
Specific features of this work that should be highlighted are the reported ability to biochemically distinguish galactosialidosis [Online Mendelian Inheritance in Man (OMIM) #256540] from sialidosis (OMIM #256550) and to more reliably detect mucolipidosis II/III (OMIM #252500/252600/252605) and especially aspartylglucosaminuria (OMIM #208400), previously a very difficult diagnosis to make in early childhood.
Although sialylated FOS are prominent in urine from patients with galactosialidosis, there was no presence of polysialylated FOS, which differed from urinary FOS profiles of patients with sialidosis.