Life story of Iranian parents of a child with phenylketonuria: a qualitative study
This study shows that mothers need more support due to the misconceptions in and attitudes of their social environment. Therefore, it is necessary to understand this group, their needs and lives, and provide further support and promote empathy in the health system for the parents. (Source: Journal of Community Genetics)
Source: Journal of Community Genetics - June 6, 2023 Category: Genetics & Stem Cells Source Type: research
Neuropsychiatric Function Improvement in Pediatric Patients With Phenylketonuria
To evaluate effects of sapropterin dihydrochloride on blood phenylalanine (Phe) and symptoms of neuropsychiatric impairment in children and adolescents with phenylketonuria (PKU). (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - May 30, 2023 Category: Pediatrics Authors: Mitzie L. Grant, Elaina R. Jurecki, Shawn E. McCandless, Stephen M. Stahl, Deborah A. Bilder, Amarilis Sanchez-Valle, David Dimmock Tags: Original Articles Source Type: research
Adults with early diagnosis of phenylketonuria have higher resting energy expenditure than adults with late diagnosis
Synopsis: Adults with early diagnosis of phenylketonuria have higher resting energy expenditure than adults with late diagnosis, but REE does not differ from that of healthy individuals. (Source: Clinical Nutrition ESPEN)
Source: Clinical Nutrition ESPEN - May 29, 2023 Category: Nutrition Authors: Thais Regina Mezzomo, Marcia Regina Messaggi Gomes Dias, Rosana Marques Pereira Tags: Original article Source Type: research
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligati... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 26, 2023 Category: Internal Medicine Authors: Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao and Xu Ma Tags: Research Source Type: research
GSE228761 Genetic circuits encoded in the Escherichia coli Nissle genome, applied to a simplified design for a phenylketonuria (PKU) treatment
Contributors : Alexander J Triassi ; Brandon D Fields ; Catherine E Monahan ; Jillian M Means ; Yongjin Park ; Hamid Doosthosseini ; Jai P Padmakumar ; Vincent M Isabella ; Christopher A VoigtSeries Type : Expression profiling by high throughput sequencingOrganism : Escherichia coli Nissle 1917As living therapeutics, Escherichia coli Nissle 1917 (EcN) have been genetically engineered to express enzymes that degrade toxic metabolites, immunoregulators to fight cancer or antimicrobial molecules to kill pathogens. Carrying these functions can impose a burden if constitutively expressed and, in the body, plasmid stability ca...
Source: GEO: Gene Expression Omnibus - May 15, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Escherichia coli Nissle 1917 Source Type: research
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.PMID:37178714 | DOI:10.1016/j.jped.2023.04.003 (Source: Jornal de Pediatria)
Source: Jornal de Pediatria - May 13, 2023 Category: Pediatrics Authors: Cristiane Mendes de Almeida Duarte Flavia Balbo Piazzon Isadora Salvador Rocco Claudia Berlim de Mello Source Type: research
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.PMID:37178714 | DOI:10.1016/j.jped.2023.04.003 (Source: Jornal de Pediatria)
Source: Jornal de Pediatria - May 13, 2023 Category: Pediatrics Authors: Cristiane Mendes de Almeida Duarte Flavia Balbo Piazzon Isadora Salvador Rocco Claudia Berlim de Mello Source Type: research
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.PMID:37178714 | DOI:10.1016/j.jped.2023.04.003 (Source: Jornal de Pediatria)
Source: Jornal de Pediatria - May 13, 2023 Category: Pediatrics Authors: Cristiane Mendes de Almeida Duarte Flavia Balbo Piazzon Isadora Salvador Rocco Claudia Berlim de Mello Source Type: research
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.PMID:37178714 | DOI:10.1016/j.jped.2023.04.003 (Source: Jornal de Pediatria)
Source: Jornal de Pediatria - May 13, 2023 Category: Pediatrics Authors: Cristiane Mendes de Almeida Duarte Flavia Balbo Piazzon Isadora Salvador Rocco Claudia Berlim de Mello Source Type: research
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.PMID:37178714 | DOI:10.1016/j.jped.2023.04.003 (Source: Jornal de Pediatria)
Source: Jornal de Pediatria - May 13, 2023 Category: Pediatrics Authors: Cristiane Mendes de Almeida Duarte Flavia Balbo Piazzon Isadora Salvador Rocco Claudia Berlim de Mello Source Type: research
Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria
CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.PMID:37178714 | DOI:10.1016/j.jped.2023.04.003 (Source: Jornal de Pediatria)
Source: Jornal de Pediatria - May 13, 2023 Category: Pediatrics Authors: Cristiane Mendes de Almeida Duarte Flavia Balbo Piazzon Isadora Salvador Rocco Claudia Berlim de Mello Source Type: research
Mothers ’ views on the storage and usage of their children’s biological material under the Danish biobanking model. - A narrative approach using epistemic injustice
The Danish public welfare system ensures health care to all citizens and is renowned internationally for keeping digital health registries. The Danish Neonatal Screening Biobank contains blood from the Phenylketonuria-screening (PKU-test) of nearly all infants born in Denmark. The samples are collected in an opt-out design and are available for general scientific research. Legal, ethical and moral concerns have been raised in several countries of how consent is obtained best in pediatric biobank governance. (Source: Value in Health)
Source: Value in Health - May 13, 2023 Category: International Medicine & Public Health Authors: Anne Wettergren Karlsson, Helle Holm Lundsgaard, Astrid Janssens Source Type: research
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review
ConclusionPKU with clinical features presenting in adulthood is an atypical subtype and should be considered during diagnosis of adults with neurological symptoms and leukoencephalopathy. DWI seems to be most helpful to distinguish patients with PKU. Additionally, we demonstrate that PKU constitutes a part (3.1%) of adult genetic leukoencephalopathies. (Source: Journal of Neurology)
Source: Journal of Neurology - May 10, 2023 Category: Neurology Source Type: research
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach
Hyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine. Biallelic pathogenic variants in DNAJC12, co-chaperone of phenylalanine, tyrosine, and tryptophan hydroxylases, leads to hyperphenylalaninemia and biogenic amines deficiency. (Source: Brain and Development)
Source: Brain and Development - May 6, 2023 Category: Neurology Authors: Rachel Sze Hui Wong, Shekeeb Mohammad, Bindu Parayil Sankaran, Rosie Junek, Won-Tae Kim, Tiffany Wotton, Sushil Bandodkar, Shanti Balasubramaniam Tags: Case Report Source Type: research
Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion
ConclusionIdeally, neurologists should be part of the PKU multidisciplinary team, either to bring lost to follow-up patients back to clinic or to manage symptoms in referred patients, considering that symptoms are often reversible upon regaining metabolic control. The current findings have been combined in a leaflet that will be disseminated among neurologists in Germany and Austria to create awareness. (Source: Journal of Neurology)
Source: Journal of Neurology - April 20, 2023 Category: Neurology Source Type: research
