LACTIC ACIDOSIS WITH ATAXIA, TYPE II
\lˈaktɪk ɐsɪdˈə͡ʊsɪs wɪð atˈe͡ɪksi͡ə], \lˈaktɪk ɐsɪdˈəʊsɪs wɪð atˈeɪksiə], \l_ˈa_k_t_ɪ_k ɐ_s_ɪ_d_ˈəʊ_s_ɪ_s w_ɪ_ð a_t_ˈeɪ_k_s_iə]\
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An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62 (6):1312-9)
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