Neuraminidase deficiency presenting as non-immune hydrops fetalis

Beck, Michael; Bender, S. W.; Reiter, H L; Otto, Wolfgang; Bässler, R; Dancygier, Henryk; Gehler, J.

doi:10.1007/bf00445802

Cited by 60 publications

(18 citation statements)

References 19 publications

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“…Sialidosis type II, or the dysmorphic type, is the early-onset form, which is also associated with Hurler-like phenotype, dysostosis multiplex, short stature, developmental delay, mental retardation, and hepatosplenomegaly [Kelly and Graetz, 1977;Winter et al, 1980]. Sialidosis type II patients are classified as those having the infantile-onset form who are relatively normal at birth, and those having the congenital-onset form that manifests prenatally and is associated with ascites and hydrops fetalis [Aylsworth et al, 1980;Beck et al, 1984]. Some authors have also used the term ''juvenile sialidosis'' to describe a form that manifests in late childhood, with a relatively mild clinical phenotype [Itoh et al, 2002;Bonten et al, 2000].…”

Section: Introductionmentioning

confidence: 99%

Molecular pathology of NEU1 gene in sialidosis

Poupětová²,

et al. 2003

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Communicated by Mark H. PaalmanLysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. Sialidosis type I is a milder, late-onset, normosomatic form of the disorder. Type I patients develop visual defects, myoclonus syndrome, cherry-red macular spots, ataxia, hyperreflexia, and seizures. The severe early-onset form, sialidosis type II, is also associated with dysostosis multiplex, Hurler-like phenotype, mental retardation, and hepatosplenomegaly. We summarize information on the 34 unique mutations determined so far in the sialidase gene, including four novel missense and one novel nonsense mutations found in two Czech and two French sialidosis patients. The analysis of sialidase mutations in sialidosis revealed considerable molecular heterogeneity, reflecting the diversity of clinical phenotypes that make molecular diagnosis difficult. The majority of sialidosis patients have had missense mutations, many of which have been expressed; their effects on activity, stability, intracellular localization, and supramolecular organization of sialidase were studied. A structural model of sialidase allowed us to localize mutations in the sialidase molecule and to predict their impact on the tertiary structure and biochemical properties of the enzyme. Hum Mutat 22:343-352,

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Section: Introductionmentioning

confidence: 99%

Molecular pathology of NEU1 gene in sialidosis

Poupětová²,

et al. 2003

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“…Two types can be distinguished: type I sialidosis refers to a slowly progressive syndrome characterized by decreased visual acuity in childhood or juvenile age, macular cherry-red spot, action myoclonus and grand mal seizures; type II sialidosis comprises the severe infantile and congenital phenotypes [1]. Patients with the congenital form show severe non-immune hydrops fetalis and ascites [2], while all patients with the infantile form have a dysmorphic gargoylic aspect, visceromegaly, dysostosis multiplex, macular cherry-red spot and mental retardation. Renal involvement has also been described [3, 4].…”

Section: Introductionmentioning

confidence: 99%

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

et al. 2000

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We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.

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“…15 Within the ''Type II'' classification is a congenital form that presents as hydrops fetalis. 16 In vitro studies suggest that the severity of disease appears to be a function of not only the residual activity of the enzyme, but also its intracellular localization. Thus, mutations that result in retention of a-neuraminidase in the endoplasmic reticulum (ER) or Golgi are associated with the severe congenital forms of sialidosis, including those with hydrops fetalis.…”

Section: Discussionmentioning

confidence: 99%

Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase

et al. 2005

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Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal a-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis.

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Neuraminidase deficiency presenting as non-immune hydrops fetalis

Cited by 60 publications

References 19 publications

Molecular pathology of NEU1 gene in sialidosis

Molecular pathology of NEU1 gene in sialidosis

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase

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