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gangliozidóza GM1

  1. Subject h.gangliozidóza GM1
    Subject h.Gangliosidosis, GM1
    Entry termsgangliozidóza G(M1)
    English X referencesG(M1) Gangliosidosis
    Scope note in EnglishAn autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
    See also reference (FX) in Slovak beta-galaktozidáza
    See also reference (FX) in English beta-Galactosidase
    Links (1) - MeSH descriptor
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Number of the records: 1  

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