Reports, Volume 3, Issue 4 (December 2020) – 10 articles
Cover Story (view full-size image): We report a male with a history of carnitine palmitoyltransferase (CPT) II deficiency and adolescent schizophrenic symptoms. Whole-exome sequencing was performed on the proband, fraternal twin sister, and biological parents to identify potentially causative variants. Although benign on their own, three variants identified in CPT2, and additional variants identified in dopamine-β-hydroxylase (DBH), may be responsible for the complex presentation of symptoms. It remains a question if early metabolic deficiencies can predispose an individual to developing schizophrenia. View this paper
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