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

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 ?
Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.
The respective disease-causative genes are as follows: CSTB , PRICKLE1 , MELF , NHLRC1 , KCTD7 , SCARB2 , PRICKLE2 , GOSR2 , KCNC1 , CERS1 , LMNB2 , and PRDM8 .[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13] However, there are other neurogenetic diseases mainly characterized by myoclonus, epileptic seizures, and ataxia, such as myoclonus epilepsy and ragged red fibers, neuronal ceroid lipofuscinoses, sialidosis, dentatorubral-pallidoluysian atrophy (DRPLA), and neuronopathic Gaucher disease, while a literature also regarded these diseases as PMEs.[1] In clinic, it is difficult to make an exact diagnosis among the various forms of PMEs due to homogeneous phenotypes.
Various causes have been proposed to lenticulostriate vasculopathy like perinatal asphyxia, respiratory disease, congenital heart disease, foetal TORCH infection, chromosomal aberrations, congenital malformations, neonatal polycythaemia, neonatal hypoglycaemia, bacterial meningitis, congenital metabolic acidosis, sialidosis, foetal hydrops, neonatal lupus erythematosus and idiopathic.!10-13!
The starting set of [sup.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,
Those are as follows: "achondroplasia", "acromegaly", "albinism", "aniridia", "brachycephaly", "cystinosis", "cystinuria", "citrullinemia", "chondrosarcoma", "choroideremia", "scaphocephaly", "scleroderma", "phenylketonuria", "fibromyalgia" (6), "galactosemia", "glycogen storage disease", "hydrocephalus", "hypochondroplasia", "hypopituitarism", "leukodystrophy", "lymphangioleiomyomatosis", "mannosidosis", "mastocytosis", "narcolepsy", "nephroptosis", "nevus", "osteonecrosis", "pycnodysostosis", "plagiocephaly", "retinoschisis", "sialidosis", "syringomyelia" and "thalassemia ".
306-MHz [sup.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.
A deficiency in neuraminidase causes ML I (sialidosis), whereas ML IV is a neurodevelopmental disorder with retinal degeneration and normal lysosomal hydrolase activity.