INCOMPLETE ANENCEPHALY
\ɪnkəmplˈiːt ˈe͡ɪnnsɪfəli], \ɪnkəmplˈiːt ˈeɪnnsɪfəli], \ɪ_n_k_ə_m_p_l_ˈiː_t ˈeɪ_n_n_s_ɪ_f_ə_l_i]\
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A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.