NONKETOTIC HYPERGLYCINEMIAS
\nˌɒnkɛtˈɒtɪk hˌa͡ɪpəɡlˌɪsɪnˈiːmi͡əz], \nˌɒnkɛtˈɒtɪk hˌaɪpəɡlˌɪsɪnˈiːmiəz], \n_ˌɒ_n_k_ɛ_t_ˈɒ_t_ɪ_k h_ˌaɪ_p_ə_ɡ_l_ˌɪ_s_ɪ_n_ˈiː_m_iə_z]\
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An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42 (1):13-22)
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Word of the day
basidiomycota
- comprises fungi bearing the spores on basidium: Gasteromycetes (puffballs); Tiliomycetes (comprising orders Ustilaginales (smuts) and Uredinales (rusts)); Hymenomycetes (mushrooms; toadstools; agarics; bracket fungi); in some classification systems considered a division of kingdom comprises fungi bearing spores on a basidium; includes Gasteromycetes (puffballs) Tiliomycetes comprising the orders Ustilaginales (smuts) and Uredinales (rusts) Hymenomycetes (mushrooms, toadstools, agarics bracket fungi).
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