INBORN METABOLIC BRAIN DISEASES
\ˈɪnbɔːn mˌɛtəbˈɒlɪk bɹˈe͡ɪn dɪzˈiːzɪz], \ˈɪnbɔːn mˌɛtəbˈɒlɪk bɹˈeɪn dɪzˈiːzɪz], \ˈɪ_n_b_ɔː_n m_ˌɛ_t_ə_b_ˈɒ_l_ɪ_k b_ɹ_ˈeɪ_n d_ɪ_z_ˈiː_z_ɪ_z]\
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Errors of brain metabolism resulting from inborn, primarily enzymatic, deficiency states. The majority of these conditions are familial, however spontaneous mutation may also occur. Deficient enzyme activity may cause brain dysfunction by leading to the accumulation of substrate, reduced product formation, or by causing metabolism to occur through alternate pathways.
By DataStellar Co., Ltd
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.
Nearby Words
- inborn errors metabolism
- inborn errors metabolisms
- inborn errors of metabolism
- inborn errors of metabolism, brain
- inborn errors, amino acid metabolism
- Inborn Metabolic Brain Diseases
- inborn metabolic brain disorders
- inborn metabolic disorders, brain
- inborn metabolism error
- inborn metabolism errors
- inborn reflex