INFANTILE SIALIC ACID STORAGE DISEASE
\ˈɪnfəntˌa͡ɪl sˈa͡ɪəlˌɪk ˈasɪd stˈɔːɹɪd͡ʒ dɪzˈiːz], \ˈɪnfəntˌaɪl sˈaɪəlˌɪk ˈasɪd stˈɔːɹɪdʒ dɪzˈiːz], \ˈɪ_n_f_ə_n_t_ˌaɪ_l s_ˈaɪ_ə_l_ˌɪ_k ˈa_s_ɪ_d s_t_ˈɔː_ɹ_ɪ_dʒ d_ɪ_z_ˈiː_z]\
Definitions of INFANTILE SIALIC ACID STORAGE DISEASE
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Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
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