TYPE II ATAXIA WITH LACTIC ACIDOSIS
\tˈa͡ɪp ɹˌə͡ʊmən tˈuː atˈe͡ɪksi͡ə wɪð lˈaktɪk ɐsɪdˈə͡ʊsɪs], \tˈaɪp ɹˌəʊmən tˈuː atˈeɪksiə wɪð lˈaktɪk ɐsɪdˈəʊsɪs], \t_ˈaɪ_p ɹ_ˌəʊ_m_ə_n_ t_ˈuː a_t_ˈeɪ_k_s_iə w_ɪ_ð l_ˈa_k_t_ɪ_k ɐ_s_ɪ_d_ˈəʊ_s_ɪ_s]\
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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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Word of the day
tinctura quininae ammoniata
- A preparation made by dissolving quinin sulphate in alcohol [Br. Ph.].