冷漠
钴胺素
易怒
大细胞贫血
精神科
儿科
心理学
无血性
甲基丙二酸尿症
医学
萧条(经济学)
维生素B12
焦虑
贫血
认知
内科学
精神分裂症(面向对象编程)
经济
宏观经济学
作者
Monika Chhajed,Pradeep Kumar Gunasekaran,Lokesh Saini,Indar Kumar Sharawat
标识
DOI:10.1016/j.ajp.2022.103131
摘要
A 9-year-old boy presented with abnormal behavior for six months. He had unprovoked aggressive behavior, and occasional self-inflicting behavior. He also had decreased appetite, anhedonia, apathy, reduced sleep, low energy, motivation, and poor interaction with parents and peers. He had mild cognitive impairment, below-average intelligence, moderate depression, and mild psychotic symptoms on assessment with appropriate scales. He had macrocytic anemia with low vitamin B12 levels. Nextgeneration sequencing revealed a novel mutation of Leu116Pro of the MMACHC gene, suggestive of combined methylmalonic aciduria and homocystinuria (cblC type). Timely initiation of therapy can change the long-term neurological outcome.
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