Published in Orphanet Journal of Rare Diseases
BackgroundIn the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE’s.MethodsTo identify expectations of patients/caregivers with PKU of CEs, a web-based survey was distributed through the national Ph...
Published in Molecular Genetics and Metabolism Reports
Introduction Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase ( PAH ) gene with a resulting accumulation of phenylalanine (Phe) to neurotoxic levels. Diagnosis of PKU in the Latvian population began in 1985 and the present study's aim was to evaluate the available data on a...
Published in Journal of community genetics
Phenylketonuria (PKU) is a condition that results in the build-up of phenylalanine in the blood. This can cause severe brain damage and neurological issues if left untreated. Management can be complex and many individuals may turn to the internet to access further information. It is important that resources are understood as misinterpretation could...
Published in Biochimie
Phenylalanine ammonia lyase (PAL) has recently emerged as an important therapeutic enzyme with several biomedical applications. The enzyme catabolizes l-phenylalanine to trans-cinnamate and ammonia. PAL is widely distributed in higher plants, some algae, ferns, and microorganisms, but absent in animals. Although microbial PAL has been extensively e...
Published in Annals of Nutrition and Metabolism
Background: Only few data on dietary management of adult phenylketonuria (PKU) patients are published. Objectives: This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. Methods: A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to ...
Published in Orphanet Journal of Rare Diseases
BackgroundIndividuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and psychological functioning. Skilled clinical management is essential for preventing complications and provi...
Published in Molecular Genetics and Metabolism Reports
Purpose Retinal changes are poorly described in early treated phenylketonuria (ETPKU). We aimed to investigate possible visual functional and ocular microstructural changes in adult patients with ETPKU. Optical coherence tomography (OCT) and its angiography (OCTA) data from patients with PKU were compared to healthy controls. Methods In this prospe...
Published in The Journal of International Medical Research
Objectives Empirical determination of phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU) relies on frequent assessment of blood Phe concentrations in relation to Phe intake from detailed meal records. This study aimed to determine Phe tolerance in twin pregnancies. Methods The reviewed cases included three women with PKU who each ...
Published in Molecular genetics and metabolism reports
Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism with a mean prevalence of approximately 1:10,000 to 1:15,000 newborns. Physical, neurocognitive and psychiatric...
Published in Acta neurologica Belgica
Recent studies have shown that patients with phenylketonuria (PKU), even with the early diagnosis and continuous treatment, may have symptoms of attention-deficit hyperactivity disorder (ADHD) and that the prevalence of ADHD in this population would be higher than in the general population. This study aims to determine the prevalence of ADHD in a s...
