GANGLIOSIDOSIS GM1, TYPE 2
\ɡˌaŋɡlɪˌɒsɪdˈə͡ʊsɪs d͡ʒˌiːˈɛm wˈɒn], \ɡˌaŋɡlɪˌɒsɪdˈəʊsɪs dʒˌiːˈɛm wˈɒn], \ɡ_ˌa_ŋ_ɡ_l_ɪ__ˌɒ_s_ɪ_d_ˈəʊ_s_ɪ_s dʒ_ˌiː__ˈɛ_m w_ˈɒ_n]\
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A form of gangliosidosis characterized by accumulation of G (M1) GANGLIOSIDE and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme BETA-GALACTOSIDASE (type A1). The three phenotypes of this disorder are infantile (generalized), juvenile, and adult. The infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities. The juvenile form features hyperacusis, seizures, and psychomotor retardation. The adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
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