Rose, Angela M Grosse, Scott D Garcia, Sandra P Bach, Janice Kleyn, Mary Simon, Norma-Jean E Prosser, Lisa A
Published in
Molecular genetics and metabolism reports
Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition. Primary data were collected with a detailed cost and utilization survey. Primary outcomes included utilization and out-of...
Yan, Yousheng Wang, Fang Zhang, Chuan Jin, Xiaohua Zhang, Qinhua Feng, Xuan Hao, Shengju Gao, Huafang Ma, Xu
Published in
Analytical and bioanalytical chemistry
This study was carried out to establish a non-invasive prenatal diagnosis method for phenylketonuria (PKU) based on droplet digital PCR (ddPCR) and to evaluate its accuracy by comparison with conventional invasive diagnostic methods. A total of 24 PKU pedigrees that required prenatal diagnosis were studied, in which the genetic mutations in the pro...
hansen, kaalund
The nutritional and metabolic characteristics of adult phenylketonuria (PKU) patients in the UK with varying dietary adherence is unknown. In other countries, nutritional and metabolic abnormalities have been reported in nonadherent patients compared to adherent counterparts. A pooled analysis of primary baseline data from two UK multi-centre studi...
Darbà, Josep
Published in
Journal of medical economics
Background: Phenylketonuria is a well-known disease, yet the characteristics of the affected population and their use of healthcare resources have not been comprehensively evaluated. Patient characteristics and use of resources are subjects of interest for most governments, especially for a disease included in newborn screening programs. Objective:...
Azabdaftari, Aline van der Giet, Markus Schuchardt, Mirjam Hennermann, Julia B. Plöckinger, Ursula Querfeld, Uwe
Published in
Orphanet Journal of Rare Diseases
BackgroundPatients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the cardiovascular phenotype in adult patients with PKU by clinical and dietary data, measurements of biochemical markers, and non-invas...
Herenger, Yvan Maes, Emmanuelle François, Laurent Pasco, Jeremy Bouchereau, Juliette Pichard, Samia Ogier de Baulny, Hélène Schiff, Manuel
Published in
Molecular genetics and metabolism reports
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal IQ, their cognitive outcome remains suboptimal. In this longitudinal study, we aimed at assessi...
Esfahani, Maryam Shaykholeslam Vallian, Sadeq
Published in
European journal of medical genetics
Phenylketonuria (PKU) is a metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene. After thalassemia, PKU is considered as the most common autosomal recessive diseases in the Iranian population. Therefore, an efficient diagnostic strategy is required to identify disease-causing mutations in this population. Following our...
van vliet, kimber rodenburg, iris l. van ginkel, willem g. lubout, charlotte m.a. wolffenbuttel, bruce h.r. van der klauw, melanie m. heiner-fokkema, m. rebecca van spronsen, francjan j.
Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (TT1) is similar to PKU in both pathogenesis and treatment. TT1 patients follow a similar diet, but n...
Zhang, Xin Chen, Huan-Xin Li, Chuan Zhang, Gui Liao, Sheng-Yun Peng, Zhuo-chun Lai, Xiao-Ping Wang, Ling-Li
Published in
BMC Medical Genetics
BackgroundPhenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to a large amount of phenylalanine discharged from the urine. Therefore, it is necessary to establish a simple, fast, a...
Asano, Yasuhisa
Published in
Bioscience, biotechnology, and biochemistry
The high stereo- and substrate specificities of enzymes have been utilized for micro-determination of amino acids. Here, I review the discovery of l-Phe dehydrogenase and its practical use in the diagnosis of phenylketonuria in more than 5,400,000 neonates over two decades in Japan. Screening and uses of other selective enzymes for micro-determinat...
