Advances in research of molecular mechanism of phenylketonuria and its treatments / 国际生物医学工程杂志
International Journal of Biomedical Engineering
;
(6): 238-241,246, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-554279
ABSTRACT
Phenylketonuria (PKU) is a severe autosomal recessive disease which can cause irreversible damage to patients' neural system and results in severe mental retardation.Although the institution of a lowphenylalanine (Phe) diet has been a remarkable success in preventing the devastating damage associated with untreated PKU,there are always small but consistent gap in intelligence quotient (IQ) scores and executive functioning when compared to siblings or healthy age-related control groups.During the past few years,several types of new treatment strategies,such as genetic engineering,enzyme replacement,tetrahydrobiopterin (BH4),large neutral amino acids (LNAA),low-Phe diet and liver or liver cell transplantation therapies,have been studied and improved.This paper aims to introduce the research advances in pathogenesis of PKU,the treatment methods and the related molecular mechanism.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
International Journal of Biomedical Engineering
Ano de publicação:
2012
Tipo de documento:
Artigo
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