CONGENITAL ABSENCE OF BRAIN
\kənd͡ʒˈɛnɪtə͡l ˈabsəns ɒv bɹˈe͡ɪn], \kəndʒˈɛnɪtəl ˈabsəns ɒv bɹˈeɪn], \k_ə_n_dʒ_ˈɛ_n_ɪ_t_əl ˈa_b_s_ə_n_s ɒ_v b_ɹ_ˈeɪ_n]\
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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.