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- W4313585462 abstract "Hyperphenylalaninemia (HPA) is the most common amino acid metabolism defect in humans. It is an autosomal-recessive disorder of the phenylalanine (Phe) metabolism, in which high Phe concentrations and low tyrosine (Tyr) concentrations in the blood cause phenylketonuria (PKU), brain dysfunction, light pigmentation and musty odor. Newborn screening data of HPA have revealed that the prevalence varies worldwide, with an average of 1:10,000. Most cases of HPA result from phenylalanine hydroxylase (PAH) deficiency, while a small number of HPA are caused by defects in the tetrahydrobiopterin (BH4) metabolism and DnaJ heat shock protein family (Hsp40) member C12 (DNAJC12) deficiency. Currently, the molecular pathophysiology of the neuropathology associated with HPA remains incompletely understood. Dietary restriction of Phe has been highly successful, although outcomes are still suboptimal and patients find it difficult to adhere to the treatment. Pharmacological treatments, such as BH4 and phenylalanine ammonia lyase, are available. Gene therapy for HPA is still in development." @default.
- W4313585462 created "2023-01-06" @default.
- W4313585462 creator A5012764458 @default.
- W4313585462 creator A5064871720 @default.
- W4313585462 creator A5089531017 @default.
- W4313585462 date "2023-01-04" @default.
- W4313585462 modified "2023-09-25" @default.
- W4313585462 title "Clinical, genetic, and experimental research of hyperphenylalaninemia" @default.
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- W4313585462 doi "https://doi.org/10.3389/fgene.2022.1051153" @default.
- W4313585462 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36685931" @default.
- W4313585462 hasPublicationYear "2023" @default.
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