THIAMINE RESPONSIVE MAPLE SYRUP URINE DISEASE
\θˈa͡ɪəmˌa͡ɪn ɹɪspˈɒnsɪv mˈe͡ɪpə͡l sˈɪɹʌp jˈʊ͡əɹɪn dɪzˈiːz], \θˈaɪəmˌaɪn ɹɪspˈɒnsɪv mˈeɪpəl sˈɪɹʌp jˈʊəɹɪn dɪzˈiːz], \θ_ˈaɪ_ə_m_ˌaɪ_n ɹ_ɪ_s_p_ˈɒ_n_s_ɪ_v m_ˈeɪ_p_əl s_ˈɪ_ɹ_ʌ_p j_ˈʊə_ɹ_ɪ_n d_ɪ_z_ˈiː_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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