Phenylketonuria (PKU), an inborn error of phenylalanine metabolism, has been shown to be a risk factor for tardive dyskinesia (TD). In male psychiatric patients there was a significant relationship between TD and measures of plasma phenylalanine following ingestion of a standardized phenylalanine dose that was indicative of higher brain availability of phenylalanine in patients with TD. In addition, a medical food formulation consisting of branched chain amino acids, which compete with phenylalanine for transport across the blood-brain barrier, has been demonstrated to be an efficacious treatment for TD. Cumulatively these findings suggested that TD was related to phenylalanine metabolism and thus that sequence variants in the gene for phenylalanine hydroxylase (PAH), the rate-limiting enzyme in the catabolism of phenylalanine, could be associated with TD susceptibility. Genetic screening of PAH in a group of 123 psychiatric patients revealed ten sequence polymorphisms and two mutations, but none appeared to be a significant risk factor for TD.

Mary Ann Richardson

Helen M. Chao

Laura L. Read

James D. Clelland

Raymond F. Suckow

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

美国医学遗传学杂志 (AJMG) 的 B 部分神经精神遗传学为神经和精神疾病遗传机制的实验和临床研究提供了一个论坛。它是对精神疾病和其他神经系统疾病的遗传性质进行新的遗传学研究的资源，以分子、细胞或行为水平为特征。 《神经精神遗传学》每年出版八次。

The American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics serves as a forum for experimental and clinical research on the genetic mechanisms of neuropsychiatric disorders. It is a resource for new genetic studies on the hereditary nature of mental illnesses and other neurological conditions, characterized by molecular, cellular, or behavioral levels. The journal is published eight times a year.

《American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics》是美国医学遗传学杂志的B部分，专注于神经和精神疾病的遗传机制。该期刊为实验和临床研究提供了一个重要的论坛，旨在探讨精神疾病及其他神经系统疾病的遗传特性，涵盖分子、细胞和行为层面的新遗传学研究。该期刊每年出版八期。

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia

Findings suggested that tardive dyskinesia was related to phenylalanine metabolism and thus that sequence variants in the gene for phenylAlanine hydroxylase (PAH), the rate‐limiting enzyme in the catabolism of phenyl Alanine, could be associated with TD susceptibility.

Category	Quartile
医学	3
医学, 遗传学	3
医学, 精神病学	3

Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia

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