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.
Inga svenska synonymer finns.
Deficiency Disease, Hexosaminidase A and B — Gangliosidosis G(M2), Type II — Gangliosidosis GM2, Type II — GM2-Gangliosidosis, Type II — GM2-Gangliosidoses, Type II — Type II GM2-Gangliosidoses — Type II GM2-Gangliosidosis — GM2 Gangliosidosis, Type II — Hexosaminidase A and B Deficiency Disease — Hexosaminidases A And B Deficiency — Sandhoff's Disease — Sandhoffs Disease — Sandhoff-Jatzkewitz-Pilz Disease — Disease, Sandhoff-Jatzkewitz-Pilz — Sandhoff Jatzkewitz Pilz Disease — G(M2) Gangliosidosis, Type II — GM2 Gangliosidosis, Type 2 — Total Hexosaminidase Deficiency — Deficiency, Total Hexosaminidase — Hexosaminidase Deficiency, Total — Total Hexosaminidase Deficiencies — beta-Hexosaminidase-beta-Subunit Deficiency — Deficiency, beta-Hexosaminidase-beta-Subunit — beta Hexosaminidase beta Subunit Deficiency — beta-Hexosaminidase-beta-Subunit Deficiencies — Juvenile Sandhoff Disease — Sandhoff Disease, Juvenile Type — Sandhoff Disease, Juvenile — Adult Sandhoff Disease — Sandhoff Disease, Adult Type — Sandhoff Disease, Adult — Infantile Sandhoff Disease — Sandhoff Disease, Infantile — Sandhoff Disease, Infantile Type