BRANCHED CHAIN KETOACIDURIAS
\bɹˈant͡ʃt t͡ʃˈe͡ɪn kˌɛtə͡ʊsɪdjˈʊ͡əɹi͡əz], \bɹˈantʃt tʃˈeɪn kˌɛtəʊsɪdjˈʊəɹiəz], \b_ɹ_ˈa_n_tʃ_t tʃ_ˈeɪ_n k_ˌɛ_t_əʊ_s_ɪ_d_j_ˈʊə_ɹ_iə_z]\
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An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
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