Svensk definition
En typ av gangliosidos som kännetecknas av ansamling av G(M1)-gangliosid och oligosackarider i lysosomer, till följd av svår brist på enzymet beta-galaktosidas (typ A1). De tre fenotyperna av sjukdomen är infantil (generaliserad), juvenil och den hos vuxna. Den infantila typen har skelettmissbildningar, hypotoni, dåligt utvecklad psykomotorik, hirsutism, förstorad lever och mjälte och ansiktsmissbildningar. Den juvenila typen uppvisar hyperakusi, krampanfall och outvecklad psykomotorik. Den form som uppträder i vuxen ålder karakteriseras av intellektuell försämring, ofrivilliga rörelser, ataxi och muskelryckningar.
Engelsk definition
An 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)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Gangliosidosis G(M1) — Gangliosidosis GM1 — Beta-Galactosidosis — Beta Galactosidosis — Beta-Galactosidase-1 Deficiency Disease — Beta Galactosidase 1 Deficiency Disease — G(M1) Gangliosidosis — GM1 Gangliosidosis — Gangliosidosis, Generalized GM1, Type 3 — Gangliosidosis GM1, Type 3 — Type 3 (Adult) GM1 Gangliosidosis — Gangliosidosis, Generalized GM1, Chronic Type — Adult GM1 Gangliosidosis — GM1 Gangliosidosis, Adult — Gangliosidosis, Adult GM1 — Gangliosidosis, Generalized GM1, Type III — GM1-Gangliosidosis, Type III — GM1 Gangliosidosis, Type III — GM1-Gangliosidoses, Type III — Type III GM1-Gangliosidoses — Type III GM1-Gangliosidosis — Gangliosidosis, Generalized GM1, Adult Type — Gangliosidosis GM1, Adult — Gangliosidosis GM1 Type 3 — Gangliosidosis, Generalized GM1, Type 2 — Gangliosidosis GM1, Type 2 — GM1-Gangliosidosis, Type II — GM1 Gangliosidosis, Type II — GM1-Gangliosidoses, Type II — Type II GM1-Gangliosidoses — Type II GM1-Gangliosidosis — Gangliosidosis, Generalized GM1 Type 2 — Gangliosidosis, Generalized GM1, Type II — Gangliosidosis GM1, Juvenile — Juvenile Gangliosidosis GM1 — Gangliosidosis, Generalized GM1, Juvenile Type — beta-Galactosidase Deficiency — Deficiency, beta-Galactosidase — Beta-Galactosidase-1 (GLB1) Deficiency — beta Galactosidase 1 Deficiency — beta-Galactosidase-1 Deficiency — Deficiency, beta-Galactosidase-1 — beta Galactosidase Deficiency — Deficiency, beta Galactosidase — GLB1 Deficiency — Deficiencies, GLB1 — Deficiency, GLB1 — Gangliosidosis, Generalized GM1, Type 1 — Gangliosidosis GM1, Type 1 — Generalized Gangliosidosis — Gangliosidosis, Generalized GM1, Type I — Gangliosidosis Generalized GM1, Type 1 — GM1-Gangliosidosis, Type I — GM1 Gangliosidosis, Type I — GM1-Gangliosidoses, Type I — Type I GM1-Gangliosidoses — Type I GM1-Gangliosidosis — Gangliosidosis, Generalized GM1, Infantile Form — Gangliosidosis GM1, Infantile — Infantile Gangliosidosis GM1