GANGLIOSIDOSIS GM2, TYPE I
\ɡˌaŋɡlɪˌɒsɪdˈə͡ʊsɪs d͡ʒˌiːˈɛm tˈuː], \ɡˌaŋɡlɪˌɒsɪdˈəʊsɪs dʒˌiːˈɛm tˈuː], \ɡ_ˌa_ŋ_ɡ_l_ɪ__ˌɒ_s_ɪ_d_ˈəʊ_s_ɪ_s dʒ_ˌiː__ˈɛ_m t_ˈuː]\
Definitions of GANGLIOSIDOSIS GM2, TYPE I
Sort: Oldest first
An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory. (Menkes, Textbook of Pediatric Neurology, 5th ed pp89-96)
By DataStellar Co., Ltd
Word of the day
- See Kordofan gum, Senegal and Cape gum.