CEREBROATROPHIC HYPERAMMONEMIAS
\səɹˌiːbɹə͡ʊtɹˈɒfɪk hˌa͡ɪpəɹˌamə͡ʊnˈiːmi͡əz], \səɹˌiːbɹəʊtɹˈɒfɪk hˌaɪpəɹˌaməʊnˈiːmiəz], \s_ə_ɹ_ˌiː_b_ɹ_əʊ_t_ɹ_ˈɒ_f_ɪ_k h_ˌaɪ_p_ə_ɹ_ˌa_m_əʊ_n_ˈiː_m_iə_z]\
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An inherited disorder that is associated with X-linked transmission and may be lethal in utero to hemizygous males. Clinically, birth and development in affected females is normal until the age of 6-25 months, when progressive loss of voluntary control of hand movements and communication skills, ataxia, stereotypic hand movements, seizures, autistic behavior, intermittent hyperventilation, and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
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