LACTIC ACIDOSIS WITH ATAXIA, TYPE I
\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 inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA, SEIZURES, and an erythematous rash. (From J Inherit Metab Dis 1996;19 (4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
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