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Sandhoffova choroba

Subject h.	Sandhoffova choroba
Subject h.	Sandhoff Disease
Entry terms	Sandhoffova choroba u dospelých Sandhoffova choroba v dospelosti Sandhoffov syndróm gangliozidóza G(M2), typ II gangliozidóza GM2, typ II gangliozidóza GM2, typ 2 deficiencia hexozaminidáz A a B choroba z deficiencie hexozaminidázy A a B choroba z deficitu hexozaminidázy A a B choroba z nedostatku hexozaminidázy A a B Sandhoffova choroba u detí Sandhoffova choroba v detstve Sandhoffova choroba, infantilná forma Sandhoffova choroba, juvenilná forma Sandhoffova choroba, adultná forma Sandhoffova-Jatzkewitzova-Pilzova choroba deficiencia hexozaminidázy, totálna deficit hexaminidázy, totálny deficiencia beta-podjednotky beta-hexozaminidázy deficiencia beta-subjednotky beta-hexozaminidázy
English X references	G(M2) Gangliosidosis, Type II Gangliosidosis G(M2), Type II Hexosaminidase A and B Deficiency Disease
Scope note in English	An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
See also reference (FX) in Slovak	beta-N-acetylhexozaminidázy
See also reference (FX) in English	beta-N-Acetylhexosaminidases
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Number of the records: 1