SPONGY DEGENERATION OF INFANCY
\spˈʌnd͡ʒi dɪd͡ʒˌɛnəɹˈe͡ɪʃən ɒv ˈɪnfənsˌi], \spˈʌndʒi dɪdʒˌɛnəɹˈeɪʃən ɒv ˈɪnfənsˌi], \s_p_ˈʌ_n_dʒ_i d_ɪ_dʒ_ˌɛ_n_ə_ɹ_ˈeɪ_ʃ_ə_n ɒ_v ˈɪ_n_f_ə_n_s_ˌi]\
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A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29 (2):463-71)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.