NEONATAL PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE
\nˈiːə͡ʊnˌe͡ɪtə͡l pˈa͡ɪɹuːvˌe͡ɪt dˌiːha͡ɪdɹˈə͡ʊd͡ʒne͡ɪs kˈɒmplɛks dɪfˈɪʃənsi dɪzˈiːz], \nˈiːəʊnˌeɪtəl pˈaɪɹuːvˌeɪt dˌiːhaɪdɹˈəʊdʒneɪs kˈɒmplɛks dɪfˈɪʃənsi dɪzˈiːz], \n_ˈiː__əʊ_n_ˌeɪ_t_əl p_ˈaɪ_ɹ_uː_v_ˌeɪ_t d_ˌiː_h_aɪ_d_ɹ_ˈəʊ_dʒ_n_eɪ_s k_ˈɒ_m_p_l_ɛ_k_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of NEONATAL PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE
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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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- Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease
- neonatal screening
- neonatal screenings
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- neonatal tremor