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The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria

Parkinsonism & Related Disorders Jun 27, 2021

Mainka T, Fischer JF, Huebl J, et al. - Researchers herein sought to describe the neurological and neuropsychiatric sequelae of late-treated phenylketonuria (PKU; a rare but treatable inborn error of metabolism). Included were 26 individuals with late-treated PKU (10 females, median age 52 years). Assessment of their clinical and paraclinical data, including video-material, revealed the common occurrences of movement disorders such as tremor, stereotypies and tics. Obsessive-compulsive and self-injurious behaviors were the identified neuropsychiatric features. Amelioration of symptoms could be achieved by providing correct diagnosis with prompt initiation and adherence to treatment.

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